Article

Genetic Analysis of Preaxial Polydactyly: Identification of Novel Mutations and the Role of ZRS Duplications in a Chinese Cohort of 102 cases

2024-08-11

Abstract excerpt

<title>Abstract</title> <p>Background: Preaxial polydactyly (PPD) is a congenital limb malformation, previously reported to be caused primarily by mutations in the <italic>ZRS</italic> and upstream <italic>preZRS</italic> regions. This study investigated genetic variations associated with PPD, focusing on point mutations and copy number variations (CNVs) in the <italic>ZRS</italic> and <italic>preZRS</italic> re...

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Literature Corpus work: 532e490c-230d-5240-ae74-53db8d4e651f
DOI: 10.21203/rs.3.rs-4718373/v1

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