Article
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
American journal of medical genetics. Part A - 1 Dec 2013
Lesca Gaetan, Moizard Marie-Pierre, Bussy Gerald, Boggio Dominique, Hu Hao, Haas Stefan A, Ropers Hans-Hilger, Kalscheuer Vera M, Des Portes Vincent, Labalme Audrey, Sanlaville Damien, Edery Patrick, Raynaud Martine, Lespinasse James
Abstract excerpt
FG syndrome, Lujan syndrome, and Ohdo syndrome, the Maat-Kievit-Brunner type, have been described as distinct syndromes with overlapping non-specific features and different missense mutations of the MED12 gene have been reported in all of them. We report a family including 10 males and 1 female affected with profound non-specific intellectual disability (ID) which was linked to a 30-cM region extending from...
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