Article
A Novel Intronic Variant in MED12 Associated with a Predominantly Hepatobiliary Phenotype Suggestive of Hardikar Syndrome: A Case Report and Literature Review.
Genes - 9 Jul 2026
El Kahy Nabil, Moukarzel Adib, Assaf Nada, Chdid Riwa, Moussallem Romy, Salem Nabiha, Chebly Alain
Abstract excerpt
BACKGROUND/OBJECTIVES: Hardikar syndrome (HDKR) is an X-linked dominant disorder caused by pathogenic variants in the Mediator complex subunit 12 (MED12) gene, predominantly affecting females. It is characterized by multisystem congenital anomalies involving the foregut, biliary tract, craniofacial structures, eyes, skeleton, and genitourinary system, with generally preserved neurodevelopment. Only 34 cases have...
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