A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B

Clinical Dysmorphology

Volumn 22, Issue 2, 2013, Pages 47-50

  Habib, Rabia ^a   Amin Ud Din, Muhammad ^b   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b UNIVERSITY OF EDUCATION   (Pakistan)

Author keywords

brachydactyly; nail dysplasia; nonsense mutation; ROR2

Indexed keywords

APLASIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; BRACHYDACTYLY TYPE B1; CLINICAL ARTICLE; CLINICAL EXAMINATION; DISTAL PHALANX; DNA EXTRACTION; GENE SEQUENCE; HAND RADIOGRAPHY; HUMAN; HYPOPLASIA; NONSENSE MUTATION; PAKISTAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; BRACHYDACTYLY; CODON, NONSENSE; GENES, DOMINANT; HAND; HETEROZYGOTE; HUMANS; MALE; NAILS, MALFORMED; PAKISTAN; PEDIGREE; PHENOTYPE; RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTORS;

EID: 84874927151     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32835c6c8c     Document Type: Article

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