Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

OBJECTIVE: To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). METHODS: We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disab...

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Detalles Bibliográficos
Autores principales: Hu, Hao, Matter, Michelle L, Issa-Jahns, Lina, Jijiwa, Mayumi, Kraemer, Nadine, Musante, Luciana, de la Vega, Michelle, Ninnemann, Olaf, Schindler, Detlev, Damatova, Natalia, Eirich, Katharina, Sifringer, Marco, Schrötter, Sandra, Eickholt, Britta J, van den Heuvel, Lambert, Casamina, Chanel, Stoltenburg-Didinger, Gisela, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4284127/
https://www.ncbi.nlm.nih.gov/pubmed/25574476
http://dx.doi.org/10.1002/acn3.149

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