Ataxia-pancytopenia syndrome with SAMD9L mutations

OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C...

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Published in:Neurol Genet
Main Authors: Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Format: Artigo
Language:Inglês
Published: Wolters Kluwer 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5570676/
https://ncbi.nlm.nih.gov/pubmed/28852709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000183
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