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Article

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia.

Internal medicine (Tokyo, Japan) - 1 Jan 2023

Takahashi Nobutaka, Mishima Takayasu, Fujioka Shinsuke, Izumi Kohtarou, Ando Masahiro, Higuchi Yujiro, Takashima Hiroshi, Tsuboi Yoshio

Abstract excerpt

Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (p.Y625D). A diagnosis of Cockayne syndrome (CS) B type III was made. CS is usually diagnosed in childhood with...

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Identifiers

PMID: 37532514
DOI: 10.2169/internalmedicine.0061-22
PMCID: PMC10465293

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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