Camurati-Engelmann disease
Definition:
References:
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[1]. A Kinoshita, et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000 Sep;26(1):19-20. [Content Brief]
[2]. Akira Kinoshita, et al. TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet A. 2004 May 15;127A(1):104-107. [Content Brief]
[3]. T Saito, et al. Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. J Biol Chem. 2001 Apr 13;276(15):11469-72. [Content Brief]
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