Mutations in GDF5 presenting as semidominant brachydactyly A1

Human Mutation

Volumn 31, Issue 10, 2010, Pages 1155-1162

  Byrnes, Ashley M ^a,b   Racacho, Lemuel ^a,b   Nikkel, Sarah M ^b,c   Xiao, Fengxia ^a   Macdonald, Heather ^a   Underhill, T Michael ^d   Bulman, Dennis E ^a,b  

^a OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Brachydactyly A1; GDF5; IHH; Semidominant

Indexed keywords

ARGININE; CYSTEINE; GROWTH DIFFERENTIATION FACTOR 5; GDF5 PROTEIN, HUMAN; IHH PROTEIN, HUMAN; MICROSATELLITE DNA; SONIC HEDGEHOG PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY TYPE A1; CHONDROGENESIS; CHROMOSOME 20Q; CHROMOSOME 5P; CHROMOSOME MAP; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WILD TYPE; AMINO ACID SEQUENCE; ANIMAL; CANADA; CELL LINE; CONSANGUINITY; DNA SEQUENCE; FOOT MALFORMATION; GENETIC LINKAGE; GENETICS; HAND MALFORMATION; HETEROZYGOTE; HOMOZYGOTE; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE;

AMINO ACID SEQUENCE; ANIMALS; CANADA; CELL LINE; CONSANGUINITY; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC LINKAGE; GROWTH DIFFERENTIATION FACTOR 5; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 79952202715     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21338     Document Type: Article

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