Mutation Spectrum in RAB 3 GAP 1 , RAB 3 GAP 2 , and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

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 RAB 3 GAP 1, RAB 3 GAP 2, or RAB 18, each of which encode proteins...

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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
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