PuSH - Publication Server of Helmholtz Zentrum München: Expanding the phenotype of <em>DNAJC3 </em>mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

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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)

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Open Access Green as soon as Postprint is submitted to ZB.

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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

Corresponding Author

Keywords Bip

ISSN (print) / ISBN 0009-9163

e-ISSN 1399-0004

Journal Clinical Genetics

Quellenangaben Volume: 92, Issue: 5, Pages: 561-562

Publisher Wiley

Publishing Place Hoboken

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)