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Clinical and genetic aspects of KBG syndrome.

author

David R. FitzPatrick

Katherine L Lachlan

Ruth Newbury-Ecob

published in: American Journal of Medical Genetics

date of publication: 2016-09-26

language: English

Cites articles 24

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Further delineation of the KBG syndrome caused by ANKRD11 aberrations

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Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

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2014-12-31

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

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2014-11-21

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

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Article - wd:Q53861877

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