ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases

BACKGROUND: Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and phalanges. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCE1, SMARCB1, SMARCA4, SMARCA2, ARID1B, an...

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Detalles Bibliográficos
Autores principales: Wang, Xiaoyan, Wu, Haiying, Sun, Hui, Wang, Lili, Chen, Linqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265212/
https://www.ncbi.nlm.nih.gov/pubmed/35813374
http://dx.doi.org/10.3389/fped.2022.911954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265212/
https://www.ncbi.nlm.nih.gov/pubmed/35813374
http://dx.doi.org/10.3389/fped.2022.911954

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