Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum-Reference-Cited by-同舟云学术

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Published:2016-10 Issue:4 Volume:25 Page:135-145
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Hamilton Mark J.,Newbury-Ecob Ruth,Holder-Espinasse Muriel,Yau Shu,Lillis Suzanne,Hurst Jane A.,Clement Emma,Reardon William,Joss Shelagh,Hobson Emma,Blyth Moira,Al-Shehhi Maryam,Lynch Sally A.,Suri Mohnish

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference34 articles.

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3. Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007

4. 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

5. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome;Bartsch;Am J Med Genet A,2010

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4. NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders;2024-02-04

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