How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?-Reference-Cited by-同舟云学术

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Published:2011-03-17 Issue:4 Volume:155 Page:880-884
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ravel Aimé,Chouery Eliane,Stora Samantha,Jalkh Nadine,Villard Laurent,Temtamy Samia,Mégarbané André

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay;Feingold;Am J Med Genet,1997

2. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome;Filippi;Am J Med Genet,1985

3. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies;Hamel;Am J Med Genet,1994

4. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP;Petrij;Nature,1995

5. Short stature, brachydactyly, nail dysplasia, and mental retardation; further observation of the Tonoki syndrome;Sorge;Am J Med Genet,1998

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