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

Dokumenttyp:: journal article
Autor(en):: Bublitz, S K; Alhaddad, B; Synofzik, M; Kuhl, V; Lindner, A; Freiberg, C; Schmidt, H; Strom, T M; Haack, T B; Deschauer, M
Titel:: Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
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).
Zeitschriftentitel:: Clin Genet
Jahr:: 2017
Band / Volume:: 92
Heft / Issue:: 5
Seitenangaben Beitrag:: 561-562
Sprache:: eng
Volltext / DOI:: doi:10.1111/cge.13069
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/28940199
Print-ISSN:: 0009-9163
TUM Einrichtung:: Institut für Humangenetik
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