A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

Journal of Human Genetics

Volumn 56, Issue 10, 2011, Pages 701-706

  Kurban, Mazen ^a   Wajid, Muhammad ^a   Petukhova, Lynn ^a   Shimomura, Yutaka ^a   Christiano, Angela M ^a,b  

^a Columbia University ^*  (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

haploinsufficiency; incomplete penetrance; synpolydactyly

Indexed keywords

ARTICLE; CHROMOSOME 2; CONSANGUINITY; CONTROLLED STUDY; GENE; GENE DELETION; GENE SEGREGATION; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HOXD13 GENE; HUMAN; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MISSENSE MUTATION; NONSENSE MUTATION; PAKISTAN; PENETRANCE; PHENOTYPE; SEQUENCE ANALYSIS; SYNDACTYLY; SYNPOLYDACTYLY 1;

CODON, NONSENSE; CONSANGUINITY; FAMILY; FEMALE; FINGERS; HOMEODOMAIN PROTEINS; HUMANS; MALE; PAKISTAN; PEDIGREE; PENETRANCE; SYNDACTYLY; TOES; TRANSCRIPTION FACTORS;

EID: 80155209699     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.84     Document Type: Article

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