Article
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Journal of medical genetics - 1 Aug 2012
Harakalova Magdalena, van den Boogaard Marie-Jose, Sinke Richard, van Lieshout Stef, van Tuil Marc C, Duran Karen, Renkens Ivo, Terhal Paulien A, de Kovel Carolien, Nijman Ies J, van Haelst Mieke, Knoers Nine V A M, van Haaften Gijs, Kloosterman Wigard, Hennekam Raoul C M, Cuppen Edwin, Ploos van Amstel Hans Kristian
Abstract excerpt
BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female relatives show a much milder expression of the phenotype. METHODS AND RESULTS: We performed X chromosome exome...
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