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Article

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Clinical genetics - 1 Nov 2017

Bublitz S K, Alhaddad B, Synofzik M, Kuhl V, Lindner A, Freiberg C, Schmidt H, Strom T M, Haack T B, Deschauer M

Abstract excerpt

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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Source

Identifiers

PMID: 28940199
DOI: 10.1111/cge.13069

Genes

DNAJC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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