PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality (vol 30, pg E618, 2009)

被引：2

作者：

Bornholdt, Dorothea ^{[1
]}

Oeffner, Frank ^{[1
]}

Koenig, Arne ^{[2
]}

Happle, Rudolf ^{[2
]}

Alanay, Yasemin ^{[3
]}

Ascherman, Jeffrey ^{[4
]}

Benke, Paul J. ^{[10
]}

del Carmen Boente, Maria ^{[11
]}

van der Burgt, Ineke ^{[5
]}

Chassaing, Nicolas ^{[16
]}

Ellis, Ian ^{[21
]}

Francisco, Christina Raissa I. ^{[17
]}

Della Giovanna, Patricia ^{[20
]}

Hamel, Ben ^{[5
]}

Has, Cristina ^{[12
]}

Heinelt, Kaatje ^{[1
]}

Janecke, Andreas ^{[18
]}

Kastrup, Wolfgang ^{[6
]}

Loeys, Bart ^{[13
]}

Lohrisch, Ingo ^{[5
]}

Marcelis, Carlo ^{[5
]}

Mehraein, Yasmin ^{[19
]}

Nicolas, Marie Eleanore O. ^{[17
]}

Pagliarini, Dana ^{[1
]}

Paradisi, Mauro ^{[14
]}

Patrizi, Annalisa ^{[9
]}

Piccione, Maria ^{[9
]}

Piza-Katzer, Hildegunde ^{[15
]}

Prager, Bettina ^{[8
]}

Prescott, Katrina ^{[7
]}

Strien, Juliane ^{[1
]}

Utine, G. Eda ^{[3
]}

Zeller, Marc S. ^{[1
]}

Grzeschik, Karl-Heinz ^{[1
]}

机构：

[1] Univ Marburg, Zentrum Humangenet, D-35032 Marburg, Germany

[2] Univ Marburg, Zentrum Hautkrankheiten, D-35032 Marburg, Germany

[3] Hacettepe Univ Ankara, Dept Pediat, Ankara, Turkey

[4] Columbia Univ, Dept Surg, New York, NY USA

[5] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[6] Hautarztpraxis Bielefeld, Bielefeld, Germany

[7] Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England

[8] Mol Genet Labor Dresden, Dresden, Germany

[9] Univ Palermo, Dipartimento Materno Infantile, UO Pediat & Terapia Intens Neonatale, I-90133 Palermo, Italy

[10] Joe Dimaggio Childrens Hosp, Div Pediat Genet, Hollywood, FL USA

[11] Hosp Nino Jesus, Dept Dermatol, San Miguel De Tucuman, Tucuman, Argentina

[12] Univ Hautklin Freiburg, Freiburg, Germany

[13] Univ Ghent, Ctr Med Genet, Ghent, Belgium

[14] Ist Dermopat Immacolata, Div Pediat Dermatol, Rome, Italy

[15] Med Univ Innsbruck, Univ Klin Plast & Wiederherstellungschirurg, Innsbruck, Austria

[16] Hop Purpan Toulouse, Serv Genet Med, Toulouse, France

[17] Univ Philippines, Philippine Gen Hosp, Dermatol Sect, Manila, Philippines

[18] Med Univ Innsbruck, Genet Beratungs & Untersuchungsstelle, Innsbruck, Austria

[19] Univ Munich, Inst Humangenet, D-80539 Munich, Germany

[20] Hosp Nacl Alejandro Posadas, Dept Dermatol, Buenos Aires, DF, Argentina

[21] Alder Hey Childrens Hosp, Dept Clin Genet, Liverpool L12 2AP, Merseyside, England

来源：

HUMAN MUTATION | 2009年 / 30卷 / 10期

关键词：

D O I：

10.1002/humu.21125

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1472 / 1473

页数：2

共 1 条

[1] PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality [J].

Bornholdt, Dorothea ;

Oeffner, Frank ;

Koenig, Arne ;

Happle, Rudolf ;

Alanay, Yasemin ;

Ascherman, Jeffrey ;

Benke, Paul J. ;

del Carmen Boente, Maria ;

van der Burgt, Ineke ;

Chassaing, Nicolas ;

Ellis, Ian ;

Francisco, Christina Raissa I. ;

Della Giovanna, Patricia ;

Hamel, Ben ;

Has, Cristina ;

Heinelt, Kaatje ;

Janecke, Andreas ;

Kastrup, Wolfgang ;

Loeys, Bart ;

Lohrisch, Ingo ;

Marcelis, Carlo ;

Mehraein, Yasmin ;

Nicolas, Marie Eleanore O. ;

Pagliarini, Dana ;

Paradisi, Mauro ;

Patrizi, Annalisa ;

Piccione, Maria ;

Piza-Katzer, Hildegunde ;

Prager, Bettina ;

Prescott, Katrina ;

Strien, Juliane ;

Utine, G. Eda ;

Zeller, Marc S. ;

Grzeschik, Karl-Heinz .

HUMAN MUTATION, 2009, 30 (05) :E618-E628

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