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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration
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.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13069
Subject(s) - neurodegeneration , phenotype , diabetes mellitus , mutation , genetics , medicine , bioinformatics , biology , endocrinology , disease , gene
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).