Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome-Reference-Cited by-同舟云学术

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

Published:2007 Issue:15 Volume:143A Page:1790-1795
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mazzeu Juliana F.,Krepischi-Santos Ana Cristina,Rosenberg Carla,Szuhai Karoly,Knijnenburg Jeroen,Weiss Janneke M.M.,Kerkis Irina,Mustacchi Zan,Colin Guilherme,Mombach Rômulo,Pavanello Rita de Cássia M.,Otto Paulo A.,Vianna-Morgante Angela M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

2. Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]

3. Terminal deletion of (1)(q42) and its phenotypical manifestations

4. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications

5. Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

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