A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase–like orphan receptor 2 (ROR2) in the majority of patients. In a subset of ROR2-negative patients with BDB, clinically defined b...

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Autors principals: Lehmann, K. , Seemann, P. , Silan, F. , Goecke, T. O. , Irgang, S. , Kjaer, K. W. , Kjaergaard, S. , Mahoney, M. J. , Morlot, S. , Reissner, C. , Kerr, B. , Wilkie, A. O. M. , Mundlos, S. 
Format: Artigo
Idioma:Inglês
Publicat: American Society of Human Genetics 2007
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950796/
https://ncbi.nlm.nih.gov/pubmed/17668388
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