Article
Two male sibs with severe micrognathia and a missense variant in MED12.
European journal of medical genetics - 1 Aug 2016
Prescott Trine E, Kulseth Mari Ann, Heimdal Ketil R, Stadheim Barbro, Hopp Einar, Gambin Tomasz, Coban Akdemir Zeynep H, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R, Stray-Pedersen Asbjørg
Abstract excerpt
Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and X-linked Ohdo syndrome. We report a family with two severely micrognathic male sibs, a 10½ year old boy and a fetus, in which hemizygosity for a previously unreported missense variant...
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