MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

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...

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Bibliographic Details
Main Authors: Luca Rocchetti, Eloisa Evangelista, Luigia De Falco, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Luigi D’Amore, Alberto Sensi, Antonio Fico
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
X-linked intellectual deficiency
next generation sequencing (NGS)
<i>MED12</i>
genotype-phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/12/9/1328

Internet

https://www.mdpi.com/2073-4425/12/9/1328

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