Skewed X-inactivation in a family with DLG3- associated X-linked intellectual disability

Author:

Gieldon Laura1ORCID,Mackenroth Luisa1,Betcheva-Krajcir Elitza1,Rump Andreas1,Beck-Wödl Stefanie2,Schallner Jens3,Di Donato Nataliya1ORCID,Schröck Evelin1,Tzschach Andreas1ORCID

Affiliation:

1. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus; Technische Universität Dresden; Dresden Germany

2. Institut für Medizinische Genetik und Angewandte Genomik; Universitätsklinikum Tübingen; Tübingen

3. Klinik und Poliklinik für Kinder- und Jugendmedizin; Universitätsklinikum Carl Gustav Carus; Dresden Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;American Journal of Human Genetics,1992

2. Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: A functional network phenotyping study;Baker;Journal of Neurodevelopmental Disorders,2015

3. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia;Boonyawat;Journal of Clinical Immunology,2013

4. Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation;Bouwman;Clinical Genetics,2011

5. Synapse-associated protein 102/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies;Cuthbert;The Journal of Neuroscience the Official Journal of the Society for Neuroscience,2007

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