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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
Simpson, M A; Hsu, R; Keir, L S; Hao, J; Sivapalan, G; Ernst, L M; Zackai, E H; Al-Gazali, L I; Hulskamp, G; Kingston, H M; Prescott, T E; Ion, A; Patton, M A; Murday, V; George, A; Crosby, A H.
Affiliation
  • Simpson MA; Department of Medical Genetics, Clinical Developmental Sciences, St George's University of London, London, SW17 0RE, UK.
Am J Hum Genet ; 81(5): 906-12, 2007 Nov.
Article in En | MEDLINE | ID: mdl-17924334
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteosclerosis / Bone Development / Bone Diseases, Developmental / Proteins / Genetic Predisposition to Disease / Mutation Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteosclerosis / Bone Development / Bone Diseases, Developmental / Proteins / Genetic Predisposition to Disease / Mutation Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Document type: Article Affiliation country: Reino Unido Country of publication: Estados Unidos