Article
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Clinical genetics - 1 Sept 2015
Chaudhry A, Noor A, Degagne B, Baker K, Bok L A, Brady A F, Chitayat D, Chung B H, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison H T, Jeng L J B, Laumonnier F, Marshall C R, Menzel M, Parkash S, Parker M J, Raymond L F, Rideout A L, Roberts W, Rupps R, Schanze I, Schrander-Stumpel C T R M, Speevak M D, Stavropoulos D J, Stevens S J C, Thomas E R A, Toutain A, Vergano S, Weksberg R, Scherer S W, Vincent J B, Carter M T
Abstract excerpt
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. Deletions have been reported in PTCHD1 however there has been little information available regarding the clinical presentation of these individuals. Herein we present 23 individuals with PTCHD1 deletions or truncating...
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