| Literature DB >> 23176487 |
Mark T Handley1, Irene A Aligianis.
Abstract
Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological abnormalities and hypothalamic hypogonadism. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. The present review summarizes the current literature on these genes and the proteins they encode.Entities:
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Year: 2012 PMID： 23176487 DOI： 10.1042/BST20120169
Source DB: PubMed Journal: Biochem Soc Trans ISSN： 0300-5127 Impact factor: 5.407