Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

ABSTRACT 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 protein...

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Veröffentlicht in:	Human mutation 2013-05, Vol.34 (5), p.686-696
Hauptverfasser:	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, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Cataract - genetics Cataract - pathology Child Child, Preschool Genotype Genotype & phenotype Humans Hypogonadism - genetics Hypogonadism - pathology Infant Intellectual Disability - genetics Intellectual Disability - pathology Magnetic Resonance Imaging Male Martsolf Micro Molecular Sequence Data Mutation Mutation, Missense Phenotype Rab rab GTP-Binding Proteins - chemistry rab GTP-Binding Proteins - genetics RAB18 rab3 GTP-Binding Proteins - chemistry rab3 GTP-Binding Proteins - genetics RAB3GAP1 RAB3GAP2 Sequence Homology, Amino Acid
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