Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

American Journal of Medical Genetics, Part A

Volumn 143, Issue 1, 2007, Pages 27-32

  Gurnett, Christina A ^a   Bowcock, Anne M ^a   Dietz, Frederick R ^b   Morcuende, Jose A ^b   Murray, Jeffrey C ^b   Dobbs, Matthew B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

Point mutations; Preaxial polydactyly; Triphalangeal thumb

Indexed keywords

DNA; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR CDX1;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CONTROLLED STUDY; ENHANCER REGION; EUROPEAN AMERICAN; FEMALE; GENE; GENE EXPRESSION REGULATION; GENOTYPE PHENOTYPE CORRELATION; HEMIMELIC EXTRA TOES MOUSE; HETEROZYGOTE; HUMAN; INTRON; LMBR1 GENE; MAJOR CLINICAL STUDY; MALE; MOUSE STRAIN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PENETRANCE; PHALANX; POINT MUTATION; POLYDACTYLY; PREAXIAL POLYDACTYLY; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY SEQUENCE; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; TRIPHALANGEAL THUMB; ZRA REGULATORY SEQUENCE;

BASE PAIRING; CHROMOSOMES, HUMAN, PAIR 7; ENHANCER ELEMENTS (GENETICS); FEMALE; FINGER PHALANGES; HEDGEHOG PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYDACTYLY; THUMB;

ERINACEIDAE;

EID: 33846021644     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31563     Document Type: Article

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