X-linked intellectual disability related to a novel variant of KLHL15

Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, freque...

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Detalles Bibliográficos
Autores principales: Kido, Jun, Egami, Kimiyasu, Misumi, Yohei, Sugawara, Keishin, Tsuchida, Naomi, Matsumoto, Naomichi, Ueda, Mitsuharu, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349042/
https://www.ncbi.nlm.nih.gov/pubmed/37452054
http://dx.doi.org/10.1038/s41439-023-00248-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349042/
https://www.ncbi.nlm.nih.gov/pubmed/37452054
http://dx.doi.org/10.1038/s41439-023-00248-7

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