A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

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

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.

Affiliation

Lehmann K; Institut fur Medizinische Genetik, Universitatsmedizin Berlin Charite, Berlin, Germany, and Regional Genetic Service, Royal Manchester Children's Hospital, UK. katarina.lehmann@charite.de

Am J Hum Genet ; 81(2): 388-96, 2007 Aug.

Article in En | MEDLINE | ID: mdl-17668388

Subject(s)

Bone Morphogenetic Proteins/antagonists & inhibitors; Carrier Proteins/genetics; Fingers/abnormalities; Hand Deformities, Congenital/genetics; Point Mutation; Toes/abnormalities; Female; Humans; Male; Models, Molecular; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Toes / Carrier Proteins / Point Mutation / Bone Morphogenetic Proteins / Fingers Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Document type: Article Affiliation country: United kingdom

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