Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly-Reference-Cited by-同舟云学术

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Published:2019-10-22 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yu Sha¹^ORCID,Wu Bingbing¹²,Qian Yanyan¹²,Zhang Ping¹²^ORCID,Lu Yulan¹²,Dong Xinran¹²,Wang Qing¹,Zhao Xuemei¹²,Liu Renchao¹²,Zhou Wenhao¹²³,Wang Huijun¹²^ORCID

Affiliation:

1. Key Laboratory of Birth Defects Pediatrics Research Institute Children’s Hospital of Fudan University Shanghai China

2. Center for Molecular Medicine Pediatrics Research Institute Children’s Hospital of Fudan University Shanghai China

3. Departments of Neonatology Children’s Hospital of Fudan University Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1009

Reference36 articles.

1. A method and server for predicting damaging missense mutations

2. Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

3. CANOES: detecting rare copy number variants from whole exome sequencing data

4. Inheritance and variable expression in Rubinstein-Taybi syndrome

5. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

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