Article
A novel MED12 mutation: Evidence for a fourth phenotype.
American journal of medical genetics. Part A - 1 Sept 2016
Prontera Paolo, Ottaviani Valentina, Rogaia Daniela, Isidori Ilenia, Mencarelli Amedea, Malerba Natascia, Cocciadiferro Dario, Rolph Pfundt, Stangoni Gabriela, Vulto-van Silfhout Anneke, Merla Giuseppe
Abstract excerpt
Mutations of the MED12 gene have been reported mainly in males with FG (Opitz-Kaveggia), Lujan-Fryns, or X-linked Ohdo syndromes. Recently, a different phenotype characterized by minor anomalies, severe intellectual disability (ID), and absent language was reported in female and male patients belonging to the same family and carrying a frameshift MED12 mutation (c.5898dupC). Here, we report on two brothers and...
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