Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the pat...

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Main Authors: Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
Format: Article
Language:English
Published: Nature Publishing Group 2024-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00262-9
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