Warburg micro syndrome
Definition:
References:
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[1]. Danai Bem, et al. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. [Content Brief]
[2]. Deborah J Morris-Rosendahl, et al. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish. Eur J Hum Genet. 2010 Oct;18(10):1100-6. [Content Brief]
[3]. Guntram Borck, et al. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011 Jan;129(1):45-50. [Content Brief]
[4]. John M Graham Jr, et al. MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. [Content Brief]
[5]. Ryan P Liegel, et al. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. [Content Brief]
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