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Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, located within a distinct segment directly after the TK domain, have been shown...

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Autori principali: Schwabe, Georg C., Tinschert, Sigrid, Buschow, Christian, Meinecke, Peter, Wolff, Gerhard, Gillessen-Kaesbach, Gabriele, Oldridge, Michael, Wilkie, Andrew O. M., Kömec, Reyhan, Mundlos, Stefan
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287887/
https://ncbi.nlm.nih.gov/pubmed/10986040
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