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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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