A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype

BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be charact...

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Detalles Bibliográficos
Autores principales: Shen, Ruiyun, Li, Yanyang, Liang, Aiming, Li, Shijie, Yang, Chenlu, Huang, Hongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762001/
https://www.ncbi.nlm.nih.gov/pubmed/36536324
http://dx.doi.org/10.1186/s12883-022-03023-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762001/
https://www.ncbi.nlm.nih.gov/pubmed/36536324
http://dx.doi.org/10.1186/s12883-022-03023-3

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