Syndromic patent ductus arteriosus: Evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder

Proceedings of the National Academy of Sciences of the United States of America

Volumn 102, Issue 8, 2005, Pages 2975-2979

  Mani, Arya ^a   Radhakrishnan, Jayaram ^a   Farhi, Anita ^a   Carew, Khary S ^a   Warnes, Carole A ^b   Nelson Williams, Carol ^a   Day, Ronald W ^c   Pober, Barbara ^a   State, Matthew W ^a   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Char; Congenital heart defects; Human genetics; Parasomnia

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR;

ARTICLE; CHAR SYNDROME; CHROMOSOME; CLINODACTYLY; DIMERIZATION; DNA BINDING; FACE DYSMORPHIA; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HUMAN; INTRON; LINKAGE ANALYSIS; MISSENSE MUTATION; NEURAL CREST; PARASOMNIA; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SLEEP DISORDER; SYNDROME; TFAP2B GENE;

ABNORMALITIES, MULTIPLE; ADULT; BONE AND BONES; DNA-BINDING PROTEINS; DUCTUS ARTERIOSUS, PATENT; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MUTATION; SLEEP DISORDERS; TOOTH ABNORMALITIES; TRANSCRIPTION FACTOR AP-2; TRANSCRIPTION FACTORS;

EID: 20044365972     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0409852102     Document Type: Article

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