Clinical and Mutational Spectrum of Mowat–Wilson Syndrome-Reference-Cited by-同舟云学术

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Published:2005-04 Issue:2 Volume:48 Page:97-111
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zweier Christiane,Thiel Christian T,Dufke Andreas,Crow Yanick J,Meinecke Peter,Suri Mohnish,Ala-Mello Sirpa,Beemer Frits,Bernasconi Sergio,Bianchi Paolo,Bier Andrea,Devriendt Koen,Dimitrov Boyan,Firth Helen,Gallagher Renata C,Garavelli Livia,Gillessen-Kaesbach Gabriele,Hudgins Louanne,Kääriäinen Helena,Karstens Susan,Krantz Ian,Mannhardt Anca,Medne Livija,Mücke Jürgen,Kibaek Maria,Krogh Lotte Nylandsted,Peippo Maarit,Rittinger Olaf,Schulz Solveig,L Schelley Susan,Temple I Karen,Dennis Nick R,Van der Knaap Marjo S,Wheeler Patricia,Yerushalmi Baruch,Zenker Martin,Seidel Heide,Lachmeijer A,Prescott Trine,Kraus Cornelia,Lowry R Brian,Rauch Anita

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference26 articles.

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2. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat–Wilson" syndrome;Bassez;Neurobiol. Dis.,2004

3. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease;Cacheux;Hum. Mol. Genet.,2001

4. Mowat–Wilson Syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity;Cerruti Mainardi;J. Med. Genet.,2004

5. The nature and mechanisms of human gene mutation;Cooper,2000

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