1.
Clin Genet
; 92(5): 561-562, 2017 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28940199
RESUMEN
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).