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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1

Coffin-Siris syndrome1 (CSS1; Online Mendelian Inheritance in Man no. 135900) is a multiple malformation syndrome characterized by intellectual and/or developmental delay, and hypoplastic or absent fifth fingernails and/or toenails. AT-rich interaction domain-containing protein 1B (ARID1B) is the mo...

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Detalles Bibliográficos
Autores principales:	Min, Zhong, Qian, Cheng, Ying, Dai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2021
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082577/ https://www.ncbi.nlm.nih.gov/pubmed/33936271 http://dx.doi.org/10.3892/etm.2021.10046

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