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Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.

American journal of medical genetics. Part A - 1 Jul 2021

Cheng Shirley S W, Luk Ho-Ming, Mok Myth Tsz-Shun, Leung Sha-Sha, Lo Ivan F M

Abstract excerpt

Coffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by pathogenic variants in genes encoding proteins of the BAF (BRG1-associated factors) chromatin modeling complex and its downstream transcriptional factor. To date over 220...

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Micrognathism
Abnormalities, Multiple
DNA-Binding Proteins
Face
Hand Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

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PMID: 33768696
DOI: 10.1002/ajmg.a.62187

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