Article

Proximal 4p Deletion Syndrome in a Woman With Developmental Delay: A Case Report and Literature Review

2025-08-07

Abstract excerpt

<title>Abstract</title> <p>Deletions in chromosome 4p can lead to two distinct phenotypes, Wolf-Hirschhorn syndrome (WHS) and proximal 4p deletion syndrome. While WHS, associated with distal deletions, has well-characterized phenotypic features, proximal 4p deletion syndrome, involving the 4p14-p 16.1 region, shows milder manifestations, and its causative gene remains unknown with fewer reported cases. Here we re...

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Literature Corpus work: 1f230d10-c9b1-58cd-a2a9-b01e1c61ded8
DOI: 10.21203/rs.3.rs-7165207/v1

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