Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

doi:10.1038/ejhg.2014.253

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Article

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

European journal of human genetics : EJHG - 1 Sept 2015

Ockeloen Charlotte W, Willemsen Marjolein H, de Munnik Sonja, van Bon Bregje W M, de Leeuw Nicole, Verrips Aad, Kant Sarina G, Jones Elizabeth A, Brunner Han G, van Loon Rosa L E, Smeets Eric E J, van Haelst Mieke M, van Haaften Gijs, Nordgren Ann, Malmgren Helena, Grigelioniene Giedre, Vermeer Sascha, Louro Pedro, Ramos Lina, Maal Thomas J J, van Heumen Celeste C, Yntema Helger G, Carels Carine E L, Kleefstra Tjitske

Abstract excerpt

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one...

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PMID: 25424714
DOI: 10.1038/ejhg.2014.253
PMCID: PMC4538199

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