Novel indel mutation in the gdf5 gene is associated with brachydactyly type c in a four-generation turkish family

Molecular Syndromology

Volumn 5, Issue 2, 2014, Pages 81-86

  Uyguner, Z O ^a   Kocaoglu M ^a   Toksoy, G ^a   Basaran, S ^a   Kayserili, H ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Brachydactyly; GDF5; indel mutation

Indexed keywords

GENOMIC DNA; GROWTH DIFFERENTIATION FACTOR 5; TRANSFORMING GROWTH FACTOR BETA; MUTANT PROTEIN;

ADULT; ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY TYPE C; CASE REPORT; FAMILY; FEMALE; FINGER; GAIN OF FUNCTION MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; TURKEY (REPUBLIC); ALPHA HELIX; AMINO ACID SEQUENCE; AUTOSOMAL DOMINANT INHERITANCE; CAUCASIAN; CLINICAL EXAMINATION; CONSULTATION; EXON; FAMILY HISTORY; FINGER MALFORMATION; FINGER PHALANX; GENE SEQUENCE; GRANDCHILD; HAND RADIOGRAPHY; HETEROZYGOTE; MALE; MIDDLE AGED; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN STRUCTURE; SHORT STATURE; SIBLING; TURK (PEOPLE);

EID: 84896287964     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000357264     Document Type: Article

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