A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

Abstract Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in Japanese twins with clubfoot. The patients’...

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Main Authors: Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
Format: Article
Language:English
Published: Nature Publishing Group 2024-02-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00266-z
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