Variable phenotypic expression of a MECP2 mutation in a family

Journal of Neurodevelopmental Disorders

Volumn 1, Issue 4, 2009, Pages 313-317

  Augenstein, Kimberly ^a   Lane, Jane B ^b   Horton, Antony ^c   Schanen, Carolyn ^d   Percy, Alan K ^b  

^a Associates of Northern Michigan   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c Rett Syndrome Research Foundation   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Dystonia; Male; MECP2; Mutation; Phenotype genotype; Rett syndrome; X chromosome inactivation

Indexed keywords

EID: 80052797675     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1007/s11689-009-9034-7     Document Type: Article

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