Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2535-2544

  Leslie, Elizabeth J ^a   Mancuso, Jennifer L ^b   Schutte, Brian C ^c   Cooper, Margaret E ^d   Durda, Kate M ^a   L'Heureux, Jamie ^a   Zucchero, Theresa M ^a   Marazita, Mary L ^d   Murray, Jeffrey C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b MAYO CLINIC   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

^d UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Cleft; Lip pit; Modifier gene; Popliteal pterygium; Van der Woude

Indexed keywords

INTERFERON REGULATORY FACTOR 6; TRANSFORMING GROWTH FACTOR BETA3;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DNA BINDING MOTIF; DNA MODIFICATION; FAMILY ASSESSMENT; FOXE1 GENE; GENE; GENE FREQUENCY; GENE LOCATION; GENE LOCUS; GENE REGULATORY NETWORK; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; IRF6 GENE; MAJOR CLINICAL STUDY; MARKER GENE; MISSENSE MUTATION; POPLITEAL PTERYGIUM SYNDROME; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TFAP2A GENE; TGFB3 GENE; VAN DER WOUDE SYNDROME;

CLEFT; LIP PIT; MODIFIER GENE; POPLITEAL PTERYGIUM; VAN DER WOUDE;

ABNORMALITIES, MULTIPLE; ALLELES; CLEFT LIP; CLEFT PALATE; CYSTS; EYE ABNORMALITIES; FAMILY; FINGERS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; KNEE JOINT; LIP; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN INTERACTION DOMAINS AND MOTIFS; SYNDACTYLY; UROGENITAL ABNORMALITIES;

EID: 84884984575     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36133     Document Type: Article

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