Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

doi:10.1016/j.gim.2024.101222

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Article

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Abstract excerpt

PURPOSE: Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12...

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Identifiers

PMID: 39045790
DOI: 10.1016/j.gim.2024.101222
PMCID: PMC11456378

Genes

MED12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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