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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
Clin. Genet. 92, 561-562 (2017)
DOI
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Letter to the Editor
Schlagwörter Bip
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Zeitschrift Clinical Genetics
Quellenangaben Band: 92, Heft: 5, Seiten: 561-562 Artikelnummer: , Supplement: ,
Verlag Wiley-Blackwell - STM
Verlagsort Hoboken
Begutachtungsstatus peer-reviewed