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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
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
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Quellenangaben Volume: 92, Issue: 5, Pages: 561-562 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Reviewing status Peer reviewed