Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease

被引：20

作者：

Horn, D

Weschke, B

Zweier, C

Rauch, A

机构：

[1] Humboldt Univ, Inst Human Genet, Charite, D-13353 Berlin, Germany

[2] Humboldt Univ, Dept Pediat, Charite, D-13353 Berlin, Germany

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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 124A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.20298

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：102 / 104

页数：3

共 7 条

[1]

AMIEL J, 2001, AM J HUM GENET S, V66, pA11

[2] 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

[3] 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

[4] Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features:: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23 [J].

Mowat, DR ;

Croaker, GDH ;

Cass, DT ;

Kerr, BA ;

Chaitow, J ;

Adís, LC ;

Chia, NL ;

Wilson, MJ .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) :617-623

[5] Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease [J].

Wakamatsu, N ;

Yamada, Y ;

Yamada, K ;

Ono, T ;

Nomura, N ;

Taniguchi, H ;

Kitoh, H ;

Mutoh, N ;

Yamanaka, T ;

Mushiake, K ;

Kato, K ;

Sonta, S ;

Nagaya, M .

NATURE GENETICS, 2001, 27 (04) :369-370

[6] Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features [J].

Yamada, K ;

Yamada, Y ;

Nomura, N ;

Miura, K ;

Wakako, R ;

Hayakawa, C ;

Matsumoto, A ;

Kumagai, T ;

Yoshimura, I ;

Miyazaki, S ;

Kato, K ;

Sonta, S ;

Ono, H ;

Yamanaka, T ;

Nagaya, M ;

Wakamatsu, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1178-1185

[7] Mowat-Wilson syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene [J].

Zweier, C ;

Albrecht, B ;

Mitulla, B ;

Behrens, R ;

Beese, M ;

Gillessen-Kaesbach, G ;

Rott, HD ;

Rauch, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (03) :177-181

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