Ullrich disease
Definition:
References:
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[1]. A Nalini, et al. Ullrich congenital muscular dystrophy: report of nine cases from India. Neurol India. 2009 Jan-Feb;57(1):41-5. [Content Brief]
[2]. Naomi L Baker, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. [Content Brief]
[3]. Yaqun Zou, et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. [Content Brief]
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