A New Case of Syndromic Craniosynostosis With Cryptic 19p13.2-p13.13 Deletion

被引：20
作者：
Lysy, Philippe A. [1 ]
Ravoet, Marie [2 ]
Wustefeld, Sandrine [2 ]
Bernard, Pierre [3 ]
Nassogne, Marie-Cecile [4 ]
Wyns, Elisabeth [2 ]
Sibille, Catherine [2 ]
机构：
[1] Univ Catholique Louvain, Clin Univ St Luc, PEDI Unit, HPED Dept, B-1200 Brussels, Belgium
[2] Univ Catholique Louvain, Clin Univ St Luc, Ctr Med Genet, GMED Dept, B-1200 Brussels, Belgium
[3] Univ Catholique Louvain, Clin Univ St Luc, GYNE Dept, Obstet Serv, B-1200 Brussels, Belgium
[4] Univ Catholique Louvain, Clin Univ St Luc, NEPE Dept, Neuropediat Serv, B-1200 Brussels, Belgium
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 11期
关键词：
MUTATIONS; GENE; ANOMALIES; 19P;
D O I：
10.1002/ajmg.a.33056
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2564 / 2568
页数：5
相关论文
共 20 条
[1]  
ALFI OS, 1976, ANN GENET-PARIS, V19, P11
[2]   Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter [J].
Archer, HL ;
Gupta, S ;
Enoch, S ;
Thompson, P ;
Rowbottom, A ;
Chua, I ;
Warren, S ;
Johnson, D ;
Ledbetter, DH ;
Lese-Martin, C ;
Williams, P ;
Pilz, DT .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 136A (01) :38-44
[3]   P450 oxidoreductase deficiency and Antley-Bixler syndrome [J].
Arlt, Wiebke .
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS, 2007, 8 (04) :301-307
[4]   Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-Evidence for Further Heterogeneity? [J].
Aten, Emmelien ;
den Hollander, Nicolette ;
Ruivenkamp, Claudia ;
Knijnenburg, Jeroen ;
van Bokhoven, Hans ;
den Dunnen, Johan ;
Breuning, Martijn .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (05) :975-981
[5]   Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists [J].
Avsian-Kretchmer, O ;
Hsueh, AJW .
MOLECULAR ENDOCRINOLOGY, 2004, 18 (01) :1-12
[6]   PATERNAL DUPLICATION OF CHROMOSOME-5Q11.2-5Q14 IN A MALE BORN WITH CRANIOSTENOSIS, EAR TAGS, KIDNEY DYSPLASIA AND SEVERAL OTHER ANOMALIES [J].
BRESLAUSIDERIUS, EJ ;
WIJNEN, JT ;
DAUWERSE, JG ;
DEPATER, JM ;
BEEMER, FA ;
KHAN, PM .
HUMAN GENETICS, 1993, 92 (05) :481-485
[7]   6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES [J].
CHOTAI, KA ;
BRUETON, LA ;
VANHERWERDEN, L ;
GARRETT, C ;
HINKEL, GK ;
SCHINZEL, A ;
MUELLER, RF ;
SPELEMAN, F ;
WINTER, RM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (03) :270-276
[8]  
ElGhouzzi V, 1997, NAT GENET, V15, P42
[9]   Craniosynostosis in a patient with a de novo 15q15-q22 deletion [J].
Hiraki, Yoko ;
Moriuchi, Miyuki ;
Okamoto, Nobuhiko ;
Ishikawa, Nobutsune ;
Sugimoto, Yosuke ;
Eguchi, Kuniki ;
Sakai, Haruya ;
Saitsu, Hirotomo ;
Mizuguchi, Takeshi ;
Harada, Naoki ;
Matsumoto, Naomichi .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (11) :1462-1465
[10]  
HURGOIU V, 1984, ANN GENET-PARIS, V27, P56
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