Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Title:: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
Document type:: Letter; Letter
Author(s):: Bublitz, S K; Alhaddad, B; Synofzik, M; Kuhl, V; Lindner, A; Freiberg, C; Schmidt, H; Strom, T M; Haack, T B; Deschauer, M
Abstract:: Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).
Journal title abbreviation:: Clin Genet
Year:: 2017
Journal volume:: 92
Journal issue:: 5
Pages contribution:: 561-562
Language:: eng
Fulltext / DOI:: doi:10.1111/cge.13069
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/28940199
Print-ISSN:: 0009-9163
TUM Institution:: Institut für Humangenetik; Neurologische Klinik und Poliklinik
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