共 7 条
[1]
Unusual Prenatal Presentation of Rubinstein-Taybi Syndrome: A Case Report
[J].
Bedeschi, Maria Francesca
;
Crippa, Beatrice Letizia
;
Colombo, Lorenzo
;
Guez, Sophie
;
Cerruti, Marta
;
Fogliani, Roberto
;
Gervasini, Cristina
;
Lalatta, Faustina
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (10)
:2663-2666

Bedeschi, Maria Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

Crippa, Beatrice Letizia
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, NICU, I-20122 Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

Colombo, Lorenzo
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, NICU, I-20122 Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

Guez, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Pediat Highly Intens Care Unit,Dept Pathophysiol, Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

Cerruti, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Pediat Highly Intens Care Unit,Dept Pathophysiol, Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

Fogliani, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Obstet & Gynecol Unit, I-20122 Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy

论文数: 引用数:
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Lalatta, Faustina
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, I-20122 Milan, Italy
[2]
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
[J].
Fergelot, Patricia
;
Van Belzen, Martine
;
Van Gils, Julien
;
Afenjar, Alexandra
;
Armour, Christine M.
;
Arveiler, Benoit
;
Beets, Lex
;
Burglen, Lydie
;
Busa, Tiffany
;
Collet, Marie
;
Deforges, Julie
;
de Vries, Bert B. A.
;
Dominguez Garrido, Elena
;
Dorison, Nathalie
;
Dupont, Juliette
;
Francannet, Christine
;
Garcia-Minaur, Sixto
;
Gabau Vila, Elisabeth
;
Gebre-Medhin, Samuel
;
Gener Querol, Blanca
;
Genevieve, David
;
Gerard, Marion
;
Gervasini, Cristina Giovanna
;
Goldenberg, Alice
;
Josifova, Dragana
;
Lachlan, Katherine
;
Maas, Saskia
;
Maranda, Bruno
;
Moilanen, Jukka S.
;
Nordgren, Ann
;
Parent, Philippe
;
Rankin, Julia
;
Reardon, Willie
;
Rio, Marlene
;
Roume, Joelle
;
Shaw, Adam
;
Smigiel, Robert
;
Sojo, Amaia
;
Solomon, Benjamin
;
Stembalska, Agnieszka
;
Stumpel, Constance
;
Suarez, Francisco
;
Terhal, Paulien
;
Thomas, Simon
;
Touraine, Renaud
;
Verloes, Alain
;
Vincent-Delorme, Catherine
;
Wincent, Josephine
;
Peters, Dorien J. M.
;
Bartsch, Oliver
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2016, 170 (12)
:3069-3082

Fergelot, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Bordeaux, Dept Genet, Bordeaux, France
Univ Hosp Bordeaux, INSERM U1211, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Van Belzen, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Van Gils, Julien
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Ctr, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Afenjar, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Armour, Christine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Reg Genet Unit, Ottawa, ON, Canada Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Arveiler, Benoit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Bordeaux, Dept Genet, Bordeaux, France
Univ Hosp Bordeaux, INSERM U1211, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Beets, Lex
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Burglen, Lydie
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Busa, Tiffany
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp La Timone, AP HM, Unite Genet Clin, Marseille, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Collet, Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Necker Enfants Malad, AP HP, Dept Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Deforges, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Ctr, Dept Genet, Bordeaux, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

de Vries, Bert B. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Donders Ctr Neurosci, Med Ctr, Nijmegen, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Dominguez Garrido, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Biomed Res, Logrono La Rioja, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Dorison, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Jerome Lejeune, Dept Neuropediat, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Dupont, Juliette
论文数: 0 引用数: 0
h-index: 0
机构:
CHLN, Hosp Santa Maria, Dept Pediat, Serv Genet, Lisbon, Portugal Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Francannet, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Estaing, Serv Genet Med, Clermont Ferrand, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Garcia-Minaur, Sixto
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp La Paz, Inst Med & Mol Genet, Madrid, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Gabau Vila, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sabadell, Genet Clin, Corp Sanitaria Parc Tauli, Sabadell, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Gebre-Medhin, Samuel
论文数: 0 引用数: 0
h-index: 0
机构:
Lund Univ, Div Clin Genet, Dept Lab Med, Lund, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Gener Querol, Blanca
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Cruces, Baracaldo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Genevieve, David
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montpellier, Hosp Arnaud de Villeneuve, Serv Genet Med, Montpellier, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Gerard, Marion
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Caen, Hosp Clemenceau, Serv Genet, Caen, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Gervasini, Cristina Giovanna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Dept Med Genet, Milan, Italy Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Goldenberg, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Rouen, Hosp Charles Nicolle, Unite Genet Clin, Rouen, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Josifova, Dragana
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp, Dept Med Genet, London, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Lachlan, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Maas, Saskia
论文数: 0 引用数: 0
h-index: 0
机构:
Acad Med Ctr, Dept Pediat, Amsterdam, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Maranda, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
CHUL, Lab Med Genet, CHUQ Pavillon, Ste Foy, PQ, Canada Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Moilanen, Jukka S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oulu, Oulu Univ Hosp, Dept Clin Genet, PEDEGO Res Unit, Oulu, Finland
Univ Oulu, Oulu Univ Hosp, Dept Clin Genet, Med Res Ctr Oulu, Oulu, Finland Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Nordgren, Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp, Dept Mol Med & Surg, Stockholm, Sweden
Karolinska Univ Hosp, Ctr Mol Med, Stockholm, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Parent, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Brest, Hosp Augustin Morvan, Dept Pediat & Genet Med, Brest, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Rankin, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Reardon, Willie
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Hosp Sick Children, Dublin, Ireland Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Rio, Marlene
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp La Timone, AP HM, Unite Genet Clin, Marseille, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Roume, Joelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHI Poissy, Unite Genet Med, St Germain En Laye, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Shaw, Adam
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp, Dept Med Genet, London, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Smigiel, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Med Univ, Dept Paediat, Wroclaw, Poland Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Sojo, Amaia
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Cruces, Baracaldo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Solomon, Benjamin
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Translat Med Inst, Div Med Genom, Falls Church, VA USA Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Stembalska, Agnieszka
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Med Univ, Dept Genet, Wroclaw, Poland Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Stumpel, Constance
论文数: 0 引用数: 0
h-index: 0
机构:
Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands
Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, Maastricht, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Suarez, Francisco
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Virgen Salud, Serv Genet, Toledo, Spain Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Terhal, Paulien
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Thomas, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Touraine, Renaud
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Hop Nord, Serv Genet Clin & Mol, St Etienne, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Verloes, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Robert Debre, AP HP, Dept Genet, Paris, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Vincent-Delorme, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Hosp Arras, Serv Genet Med, Arras, France Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Wincent, Josephine
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Univ Hosp, Dept Mol Med & Surg, Stockholm, Sweden
Karolinska Univ Hosp, Ctr Mol Med, Stockholm, Sweden Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Peters, Dorien J. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands Univ Hosp Bordeaux, Dept Genet, Bordeaux, France

Bartsch, Oliver
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Inst Human Genet, Mainz, Germany Univ Hosp Bordeaux, Dept Genet, Bordeaux, France
[3]
Prenatal Sonographic Diagnosis of Rubinstein-Taybi Syndrome
[J].
Greco, Elena
;
Sglavo, Gabriella
;
Paladini, Dario
.
JOURNAL OF ULTRASOUND IN MEDICINE,
2009, 28 (05)
:669-672

Greco, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy

Sglavo, Gabriella
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy

Paladini, Dario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy Univ Naples Federico 2, Dept Gynecol & Obstet, Fetal Cardiol Unit, Naples, Italy
[4]
Rubinstein-Taybi syndrome
[J].
Hennekam, Raoul C. M.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2006, 14 (09)
:981-985

Hennekam, Raoul C. M.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Great Ormond St Hosp Children, Clin & Mol Genet Unit, Inst Child Hlth, London WC1N 1EH, England
[5]
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
[J].
Milani, Donatella
;
Manzoni, Francesca Maria Paola
;
Pezzani, Lidia
;
Ajmone, Paola
;
Gervasini, Cristina
;
Menni, Francesca
;
Esposito, Susanna
.
ITALIAN JOURNAL OF PEDIATRICS,
2015, 41

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Manzoni, Francesca Maria Paola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy

论文数: 引用数:
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Ajmone, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ca Granda Osped Maggiore Policlin, UO Neuropsichiatria Infanzia & Adolescenza, Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy

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Menni, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy

Esposito, Susanna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dept Pathophysiol & Transplantat, Pediat Highly Intens Care Unit, I-20122 Milan, Italy
[6]
TUMORS IN RUBINSTEIN-TAYBI SYNDROME
[J].
MILLER, RW
;
RUBINSTEIN, JH
.
AMERICAN JOURNAL OF MEDICAL GENETICS,
1995, 56 (01)
:112-115

MILLER, RW
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,AFFILIATED CTR DEV DISORDERS,CINCINNATI,OH

RUBINSTEIN, JH
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CINCINNATI,AFFILIATED CTR DEV DISORDERS,CINCINNATI,OH
[7]
Genotype-Phenotype Correlations in Rubinstein-Taybi Syndrome
[J].
Schorry, E. K.
;
Keddache, M.
;
Lanphear, N.
;
Rubinstein, J. H.
;
Srodulski, S.
;
Fletcher, D.
;
Blough-Pfau, R. I.
;
Grabowski, G. A.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2008, 146A (19)
:2512-2519

Schorry, E. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Keddache, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Lanphear, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Dev & Behav Pediat, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Rubinstein, J. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Dev & Behav Pediat, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Srodulski, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Fletcher, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Blough-Pfau, R. I.
论文数: 0 引用数: 0
h-index: 0
机构:
Dayton Childrens Hosp, Dayton, OH USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

Grabowski, G. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA