X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum-Reference-Cited by-同舟云学术

X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum

Published:2003-01-16 Issue:2 Volume:120A Page:222-228
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

De Falco Francesca,Cainarca Silvia,Andolfi Grazia,Ferrentino Rosa,Berti Caterina,Rodríguez Criado German,Rittinger Olaf,Dennis Nick,Odent Sylvie,Rastogi Amit,Liebelt Jan,Chitayat David,Winter Robin,Jawanda Harindar,Ballabio Andrea,Franco Brunella,Meroni Germana

Funder

Italian Telethon Foundation

March of Dimes Birth Defects Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

2. Opitz (BBB/G) syndrome: Oral manifestations;Brooks;Am J Med Genet,1992

3. Functional characterization of the Opitz syndrome gene product (midin): Evidence for homodimerization and association with microtubules throughout the cell cycle;Cainarca;Hum Mol Genet,1999

4. The Opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes;Cappa;Am J Med Genet,1987

5. Phenotypic overlap of the BBB and G syndromes;Cordero;Am J Med Genet,1978

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