Article
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
Journal of medical genetics - 1 Dec 2013
Schuurs-Hoeijmakers Janneke H M, Vulto-van Silfhout Anneke T, Vissers Lisenka E L M, van de Vondervoort Ilse I G M, van Bon Bregje W M, de Ligt Joep, Gilissen Christian, Hehir-Kwa Jayne Y, Neveling Kornelia, del Rosario Marisol, Hira Gausiya, Reitano Santina, Vitello Aurelio, Failla Pinella, Greco Donatella, Fichera Marco, Galesi Ornella, Kleefstra Tjitske, Greally Marie T, Ockeloen Charlotte W, Willemsen Marjolein H, Bongers Ernie M H F, Janssen Irene M, Pfundt Rolph, Veltman Joris A, Romano Corrado, Willemsen Michèl A, van Bokhoven Hans, Brunner Han G, de Vries Bert B A, de Brouwer Arjan P M
Abstract excerpt
BACKGROUND: Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1-3% of the general population. Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown. OBJECTIVES: We investigated 19 small non-consanguineous families with two to five affected siblings in order to identify pathogenic gene...
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