Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation

Human Molecular Genetics

Volumn 17, Issue 17, 2008, Pages 2644-2653

  Ugur, Sibel Aylin ^a   Tolun, Aslihan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ISOPROTEIN; PROTEIN P63; PROTEIN WNT10B; TRYPTOPHAN; WNT PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE INSERTION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC TRAIT; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; LIMB MALFORMATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SPLIT HAND FOOT MALFORMATION; SYMPTOMATOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOMES, HUMAN, PAIR 12; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTO-ONCOGENE PROTEINS; SEQUENCE ALIGNMENT; WNT PROTEINS;

EID: 49649122346     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn164     Document Type: Article

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