Two adults with RubinsteinâTaybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers-Reference-Cited by-同舟云学术

Two adults with RubinsteinâTaybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

Published:2009-12 Issue:12 Volume:149A Page:2849-2854
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wieczorek Dagmar,Bartsch Oliver,Lechno Stanislav,Kohlhase JÃ¼rgen,Peters Dorien J.M.,Dauwerse Hans,Gillessen-Kaesbach Gabriele,Hennekam Raoul C.M.,Passarge Eberhard

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33129/fullpdf

Reference26 articles.

1. Rubinstein-Taybi syndrome: Objective evaluation of craniofacial structure;Allanson;Am J Med Genet,1997

2. Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007

3. FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy;Bartsch;Eur J Hum Genet,1999

4. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP;Bartsch;J Med Genet,2002

5. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005

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1. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome;African Health Sciences;2021-08-02

2. Rubinstein–Taybi syndrome in diverse populations;American Journal of Medical Genetics Part A;2020-09-27

3. Benign and malignant tumors in Rubinstein-Taybi syndrome;American Journal of Medical Genetics Part A;2018-01-23

4. Rubinstein–Taybi because of a novel EP300 mutation with novel clinical findings;Clinical Dysmorphology;2017-07

5. The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein–Taybi Syndrome;Health & Social Work;2016-12-15