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Coffin–Siris syndrome: Clinical description of two cases

Coffin–Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin–Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin–Siris syndrome with mutations in the ARID1A ge...

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Detalles Bibliográficos
Autores principales: Hollander, Nina, ten Tusscher, Gavin William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755812/
https://www.ncbi.nlm.nih.gov/pubmed/36540875
http://dx.doi.org/10.1002/ccr3.6598