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Article

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Journal of genetics and genomics = Yi chuan xue bao - 1 Dec 2024

Park Ji-Won, Choi Tae-Ik, Kim Tae-Yoon, Lee Yu-Ri, Don Dilan Wellalage, George-Abraham Jaya K, Robak Laurie A, Trandafir Cristina C, Liu Pengfei, Rosenfeld Jill A, Kim Tae Hyeong, Petit Florence, Kim Yoo-Mi, Cheon Chong Kun, Lee Yoonsung, Kim Cheol-Hee

Abstract excerpt

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes. Here, we report five patients with WS with 1.4 Mb-1.5 Mb microdeletions...

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Identifiers

PMID: 39368701
DOI: 10.1016/j.jgg.2024.09.016
PMCID: PMC11624490

Genes

RFC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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