Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 282-288

  Takano, K ^a   Lyons, M ^a   Moyes, C ^b   Jones, J ^a   Schwartz, C E ^a,c  

^a GREENWOOD GENETIC CENTER   (United States)

^b Whakatane Hospital   (New Zealand)

^c CLEMSON UNIVERSITY   (United States)

Author keywords

Angelman like; ATR X; Hopkins syndrome; Pitt; TCF4

Indexed keywords

BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; CLOBAZAM; LAMOTRIGINE; PROTEIN; PROTEIN TCF4; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CYANOSIS; DNA METHYLATION; EPILEPSY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

ADOLESCENT; ANGELMAN SYNDROME; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; TRANSCRIPTION FACTORS;

EID: 77955828721     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01380.x     Document Type: Article

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