Article
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
American journal of medical genetics. Part A - 1 Oct 2015
Afifi Hanan H, Fukai Ryoko, Miyake Noriko, Gamal El Din Amina A, Eid Maha M, Eid Ola M, Thomas Manal M, El-Badry Tarek H, Tosson Angie M S, Abdel-Salam Ghada M H, Matsumoto Naomichi
Abstract excerpt
Generalized hypertrichosis is a feature of several genetic disorders, and the nosology of these entities is still provisional. Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. Here, we report on a 5-year-old Egyptian girl born to...
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