Martsolf syndrome
Definition:
References:
-
[1]. Guntram Borck, et al. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet. 2011 Jan;129(1):45-50. [Content Brief]
[2]. Hiroaki Ehara, et al. Martsolf syndrome in Japanese siblings. Am J Med Genet A. 2007 May 1;143A(9):973-8. [Content Brief]
[3]. Irene A Aligianis, et al. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet. 2006 Apr;78(4):702-7. [Content Brief]
[4]. M G Harbord, et al. Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. J Med Genet. 1989 Jun;26(6):397-400. [Content Brief]
Molarity Calculator
Dilution Calculator
