RAB18 Deficiency
Search For A Disorder
References
Kabzinska D, Mierzewska H, Senderek J, Kochanski A. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. Folia Neuropathol. 2016;54(3):273-281.
Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Open Biol. 2015 Jun;5(6). pii: 150047. doi: 10.1098/rsob.150047.
Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, M?oller L,Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F. 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.
Abdel-Salam GM, Hassan NA, Kayed HF, Aligianis IA. Phenotypic variability in Micro syndrome: report of new cases. Genet Couns. 2007;18(4):423-35.
Warburg M, Sjo O, Fledelius HC, Pedersen SA. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. Am J Dis Child. 1993 Dec;147(12):1309-12.