Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Human Mutation

Volumn 37, Issue 8, 2016, Pages 804-811

  Fieremans, Nathalie ^a,b   Van Esch, Hilde ^c   Holvoet, Maureen ^c   Van Goethem, Gert ^d   Devriendt, Koenraad ^c   Rosello, Monica ^e   Mayo, Sonia ^e   Martinez, Francisco ^e   Jhangiani, Shalini ^f   Muzny, Donna M ^f   Gibbs, Richard A ^f   Lupski, James R ^f,g   Vermeesch, Joris R ^c   Marynen, Peter ^a   Froyen, Guy ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

escape genes; exome sequencing; intellectual disability; skewing of X inactivation

Indexed keywords

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; DDX3X GENE; EXOME; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HDAC8 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; MECP2 GENE; MED12 GENE; NHS GENE; PRIORITY JOURNAL; SMC1A GENE; TAF9B GENE; WDR45 GENE; X CHROMOSOME INACTIVATION;

EID: 84978160508     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23012     Document Type: Article

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