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Volumn 11, Issue 11, 2009, Pages 797-805

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Author keywords

Array CGH; Deletion; Genotype phenotype; Pitt Hopkins syndrome; Seizures; TCF4

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 18Q; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERVENTILATION; INFANT; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PITT HOPKINS SYNDROME; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; TCF4 GENE;

EID: 73849121676     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181bd38a9     Document Type: Article
Times cited : (65)

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