Article

Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family

2024-03-14

Abstract excerpt

<title>Abstract</title> <p>Aim Nail-patella syndrome is an autosomal dominant disorder caused by mutations in LMX1B gene, affecting different systems including skeleton-muscular, renal and ocular system. The complicated relationship between genotype and phenotype is still unclear. Here, we report a novel missense mutation in a Chinese family. Method Clinical information of the family was collected, along with t...

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Literature Corpus work: dee278df-ab10-559d-b5ce-cf02e29f13ef
DOI: 10.21203/rs.3.rs-4073484/v1

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