Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

被引：32

作者：

Mainardi, PC

Pastore, G

Zweier, C

Rauch, A

机构：

[1] Osped S Andrea Vercelli, Div Pediat, Serv Genet, Dept Pediat, I-13100 Vercelli, Italy

[2] Osped S Andrea Vercelli, Genet Unit, I-13100 Vercelli, Italy

[3] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 02期

关键词：

D O I：

10.1136/jmg.2003.009548

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：6

共 27 条

[1] Hirschsprung disease, associated syndromes, and genetics: a review [J].

Amiel, J ;

Lyonnet, S .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (11) :729-739

[2] Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures [J].

Amiel, J ;

Espinosa-Parrilla, Y ;

Steffann, J ;

Gosset, P ;

Pelet, A ;

Prieur, M ;

Boute, O ;

Choiset, A ;

Lacombe, D ;

Philip, N ;

Le Merrer, M ;

Tanaka, H ;

Till, M ;

Touraine, R ;

Toutain, A ;

Vekemans, M ;

Munnich, A ;

Lyonnet, S .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1370-1377

[3] FACIAL CLEFT AND CONGENITAL MEGACOLON - A SPECIFIC DISORDER [J].

BRESLAU, L ;

LAAN, L .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :613-613

[4]

Brooks AS, 1999, J MED GENET, V36, P485

[5]

Brunoni D, 1983, J Clin Dysmorphol, V1, P20

[6] Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease [J].

Cacheux, V ;

Dastot-Le Moal, F ;

Kääriäinen, H ;

Bondurand, N ;

Rintala, R ;

Boissier, B ;

Wilson, M ;

Mowat, D ;

Goossens, M .

HUMAN MOLECULAR GENETICS, 2001, 10 (14) :1503-1510

[7]

FRANKENBURG WK, 1992, PEDIATRICS, V89, P91

[8] Goldberg-Shprintzen syndrome: report of a new family and review of the literature [J].

Fryer, AE .

CLINICAL DYSMORPHOLOGY, 1998, 7 (02) :97-101

[9] Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1):: Confirmation of the Mowat-Wilson syndrome [J].

Garavelli, L ;

Donadio, A ;

Zanacca, C ;

Banchini, G ;

Della Giustina, E ;

Bertani, G ;

Albertini, G ;

Del Rossi, C ;

Zweier, C ;

Rauch, A ;

Zollino, M ;

Neri, G .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (04) :385-388

[10]

GOLDBERG RB, 1981, J CRAN GENET DEV BIO, V1, P185

← 1 2 3 →