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Article

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Genes - 27 Aug 2021

Rocchetti Luca, Evangelista Eloisa, De Falco Luigia, Savarese Giovanni, Savarese Pasquale, Ruggiero Raffaella, D'Amore Luigi, Sensi Alberto, Fico Antonio

Abstract excerpt

X-linked intellectual deficiency (XLID) is a widely heterogeneous group of genetic disorders that involves more than 100 genes. The mediator of RNA polymerase II subunit 12 (MED12) is involved in the regulation of the majority of RNA polymerase II-dependent genes and has been shown to cause several forms of XLID, including Opitz-Kaveggia syndrome also known as FG syndrome (MIM #305450), Lujan-Fryns syndrome (MIM...

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Identifiers

PMID: 34573309
DOI: 10.3390/genes12091328
PMCID: PMC8471817

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