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

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

Abstract 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 statur...

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Bibliographic Details
Main Authors: Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Format: Article
Language:English
Published: Nature Publishing Group 2023-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00248-7

Internet

https://doi.org/10.1038/s41439-023-00248-7

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