Article
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Human mutation - 1 May 2013
Handley Mark T, Morris-Rosendahl Deborah J, Brown Stephen, Macdonald Fiona, Hardy Carol, Bem Danai, Carpanini Sarah M, Borck Guntram, Martorell Loreto, Izzi Claudia, Faravelli Francesca, Accorsi Patrizia, Pinelli Lorenzo, Basel-Vanagaite Lina, Peretz Gabriela, Abdel-Salam Ghada M H, Zaki Maha S, Jansen Anna, Mowat David, Glass Ian, Stewart Helen, Mancini Grazia, Lederer Damien, Roscioli Tony, Giuliano Fabienne, Plomp Astrid S, Rolfs Arndt, Graham John M, Seemanova Eva, Poo Pilar, García-Cazorla Angels, Edery Patrick, Jackson Ian J, Maher Eamonn R, Aligianis Irene A
Abstract excerpt
Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Causative biallelic germline mutations have been identified in RAB3GAP1, RAB3GAP2, or RAB18, each of which encode proteins involved in membrane trafficking. This report provides an up to date overview of all known disease variants identified in...
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