Mild phenotypes in a series of patients with Opitz GBBB syndrome withMID1mutations-Reference-Cited by-同舟云学术

Mild phenotypes in a series of patients with Opitz GBBB syndrome withMID1mutations

Published:2005-01-01 Issue:1 Volume:132A Page:1-7
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

So Joyce,Suckow Vanessa,Kijas Zofia,Kalscheuer Vera,Moser Bettina,Winter Jennifer,Baars Marieke,Firth Helen,Lunt Peter,Hamel Ben,Meinecke Peter,Moraine Claude,Odent Sylvie,Schinzel Albert,van der Smagt J.J.,Devriendt Koen,Albrecht Beate,Gillessen-Kaesbach Gabriele,van der Burgt Ineke,Petrij Fred,Faivre Laurence,McGaughran Julie,McKenzie Fiona,Opitz John M.,Cox Timothy,Schweiger Susann

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology;Cox;Clin Genet,2004

3. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome;Cox;Hum Mol Genet,2000

4. X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum;De Falco;Am J Med Genet,2003

5. Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain;Gaudenz;Am J Hum Genet,1998

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