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Variant analysis of the chromodomain helicase DNA‐binding protein 7 in pediatric disorders of sex development

IMPORTANCE: This study investigated the role of the chromodomain helicase DNA‐binding protein 7 (CHD7) in disorders of sex development (DSD). OBJECTIVE: We aimed to present the potential pathogenicity of CHD7 variants in pediatric patients with DSD. METHODS: Choosing cases with CHD7 variants from DS...

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Detalles Bibliográficos
Autores principales: Zhang, Beibei, Song, Yanning, Li, Wei, Gong, Chunxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331373/
https://www.ncbi.nlm.nih.gov/pubmed/32851286
http://dx.doi.org/10.1002/ped4.12111