Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome-Reference-Cited by-同舟云学术

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Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome

Published:2023-10 Issue:9 Volume:45 Page:495-504
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Wu Chenchen,Maegawa Gustavo H.B.,Zhang Huiwen^ORCID

Funder

Shanghai Municipal Education Commission

Science and Technology Commission of Shanghai Municipality

Shanghai Municipal Health Commission

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference43 articles.

1. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability;Santen;Epigenetics,2012

2. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients;Sekiguchi;J Hum Genet,2019

3. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature;Kosho;Am J Med Genet A,2013

4. Mental retardation with absent fifth fingernail and terminal phalanx;Bartsocas;Am J Dis Child,1970

5. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients;Santen;Hum Mutat,2013

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