Genotype and cognitive phenotype of patients with tuberous sclerosis complex

European Journal of Human Genetics

Volumn 20, Issue 5, 2012, Pages 510-515

  Van Eeghen, Agnies M ^a,b   Black, Margaux E ^a   Pulsifer, Margaret B ^a   Kwiatkowski, David J ^c   Thiele, Elizabeth A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

cognition; epilepsy; phenotype; tuberous sclerosis

Indexed keywords

HAMARTIN; TUBERIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; COGNITION; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GERM LINE; HUMAN; INTELLECT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN INTERACTION; SCHOOL CHILD; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COGNITION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84859893640     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.241     Document Type: Article

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