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Titel:

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

Dokumenttyp:
Letter; Letter
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
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; Neurologische Klinik und Poliklinik
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