Article
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
American journal of medical genetics. Part A - 1 Jan 2016
Hackmann Karl, Rump Andreas, Haas Stefan A, Lemke Johannes R, Fryns Jean-Pierre, Tzschach Andreas, Wieczorek Dagmar, Albrecht Beate, Kuechler Alma, Ripperger Tim, Kobelt Albrecht, Oexle Konrad, Tinschert Sigrid, Schrock Evelin, Kalscheuer Vera M, Di Donato Nataliya
Abstract excerpt
The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS....
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