Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: No phenotypic difference between homozygotes and heterozygotes

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 85-90

  Semerci, C Nur ^a   Demirkan, F ^a   Ozdemir M ^a   Biskin, E ^a   Akin, B ^b   Bagci, H ^a   Akarsu, N A ^b  

^a PAMUKKALE UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Chromosome 7q36; Homozygote; LMBR1 gene; Preaxial polydactyly; Triphalangeal thumb

Indexed keywords

DNA MARKER; PROTEIN LMBR1; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 7Q; CLINICAL ARTICLE; DNA SEQUENCE; FAMILY STUDY; GENE MAPPING; GENE MUTATION; GENETIC DIFFERENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROMOTER REGION; TRIPHALANGEAL THUM PREAXIAL POLYDACTYLY;

BASE SEQUENCE; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYDACTYLY;

EID: 67650927391     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01192.x     Document Type: Article

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