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

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
Clin Genet. 2017 Sep 21;:
Authors: Bublitz SK, Alhaddad B, Synofzik M, Kuhl V, Lindner A, Freiberg C, Schmidt H, Strom TM, Haack TB, Deschauer M
Abstract
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).
PMID: 28940199 [PubMed - as supplied by publisher]

Source: Clinical Genetics - September 21, 2017 Category: Genetics & Stem Cells Authors: Bublitz SK, Alhaddad B, Synofzik M, Kuhl V, Lindner A, Freiberg C, Schmidt H, Strom TM, Haack TB, Deschauer M Tags: Clin Genet Source Type: research