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Bublitz, S.K.* ; Alhaddad, B.* ; Synofzik, M.* ; Kuhl, V.* ; Lindner, A.* ; Freiberg, C.* ; Schmidt, H.* ; Strom, T.M. ; Haack, T.B.* ; Deschauer, M.*

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

Clin. Genet. 92, 561-562 (2017)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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).
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Publication type Article: Journal article
Document type Letter to the Editor
Keywords Bip
Language
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Journal Clinical Genetics
Quellenangaben Volume: 92, Issue: 5, Pages: 561-562 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
PubMed ID 28940199
DOI 10.1111/cge.13069
WOS ID WOS:000412590300017
Scopus ID 85030701510
Erfassungsdatum 2017-09-28
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