Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 822-831

  Schwabe, Georg C ^a   Tinschert, Sigrid ^b   Buschow, Christian ^h   Meinecke, Peter ^c   Wolff, Gerhard ^d   Gillessen Kaesbach, Gabriele ^e   Oldridge, Michael ^f   Wilkie, Andrew O M ^f   KÖmec, Reyhan ^g   Mundlos, Stefan ^a,b,h  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Inst für Medizinische Genetik   (Germany)

^c Altonaer Kinderkrankenhaus   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; BRACHYDACTYLY; FAMILY STUDY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; NONSENSE MUTATION; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; ROBINOW SYNDROME;

EID: 20244373742     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303084     Document Type: Article

References (18)

1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B is caused by mutation of ROR2
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14. Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation
15. Binary specification of nonsense codons by splicing and cytoplasmic translation
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17. Dror, a potential neurotrophic receptor gene, encodes a Drosophila homolog of the vertebrate Ror family of Trk-related receptor tyrosine kinases
18. At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: A possible link between nuclear splicing and cytoplasmic translation