A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient

BackgroundNon-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe hypoplasia or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13.Objectiv...

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Bibliographic Details
Main Authors: Qiang Zhang, Qi Yang, Xunzhao Zhou, Sujie Zhang, Jingsi Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Pediatrics
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Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1592954/full
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