Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
Clin. Genet. 92, 561-562 (2017)
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).
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
Verlag
Wiley
Verlagsort
Hoboken
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)