A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare and clinically variable syndrome characterized by growth impairment, multi‐organ anomalies, and a typical set of facial dysmorphisms. Here we describe a 2‐year‐old female child harboring a novel de novo missense variant in HDAC8, whose phenotyp...

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Detalles Bibliográficos
Autores principales: Mio, Catia, Passon, Nadia, Fogolari, Federico, Cesario, Claudia, Novelli, Antonio, Pittini, Carla, Damante, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457687/
https://www.ncbi.nlm.nih.gov/pubmed/34342180
http://dx.doi.org/10.1002/mgg3.1612

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457687/
https://www.ncbi.nlm.nih.gov/pubmed/34342180
http://dx.doi.org/10.1002/mgg3.1612

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