Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 297-302

  Stattin, Eva Lena ^a   Lindén, Bjarne ^b   Lönnerholm, Torsten ^c   Schuster, Jens ^d   Dahl, Niklas ^d  

^a UMEÅ UNIVERSITY   (Sweden)

^b Högland Hospital   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

^d UPPSALA UNIVERSITY   (Sweden)

Author keywords

BDA1; Brachydactyly; IHH gene; Mutation; Radiology

Indexed keywords

PROTEIN PATCHED; SONIC HEDGEHOG PROTEIN;

ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; BRACHYDACTYLY TYPE A1; CHROMOSOME 5P; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; MALE; METACARPAL BONE; METACARPOPHALANGEAL JOINT; OSTEOARTHRITIS; OSTEOCHONDRITIS DISSECANS; RADIODIAGNOSIS; THREE DIMENSIONAL IMAGING; ULNA;

ADULT; AGED, 80 AND OVER; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 5; CYSTEINE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HEDGEHOG PROTEINS; HETEROZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SWEDEN;

ERINACEIDAE;

EID: 68949157298     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.05.008     Document Type: Article

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