Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

HAF, Stessman; MH, Willemsen; M, Fenckova; O, Penn; A, Hoischen; B, Xiong; T, Wang; K, Hoekzema; L, Vives; I, Vogel; HG, Brunner; der Burgt I, van; CW, Ockeloen; JH, Schuurs-Hoeijmakers; Wassink-Ruiter JS, Klein; C, Stumpel; SJC, Stevens; HS, Vles; CM, Marcelis; Bokhoven H, van; V, Cantagrel; L, Colleaux; M, Nicouleau; S, Lyonnet; RA, Bernier; J, Gerdts; BP, Coe; C, Romano; A, Alberti; L, Grillo; C, Scuderi; M, Nordenskjöld; M, Kvarnung; H, Guo; K, Xia; A, Piton; B, Gerard; D, Genevieve; B, Delobel; D, Lehalle; L, Perrin; F, Prieur; J, Thevenon; J, Gecz; M, Shaw; R, Pfundt; B, Keren; A, Jacquette; A, Schenck; EE, Eichler; T, Kleefstra

doi:10.1016/j.ajhg.2016.02.004

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Shared by NobleBlocks on Mar 1, 2016 • 12:00 AM UTC

Authors:

Stessman HAF

Willemsen MH

Fenckova M

Abstract

Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical inf...

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