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Article

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Apr 2020

Leemans G, De Raeve L, Keymolen K

Abstract excerpt

BACKGROUND: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur-deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life-threatening infections. OBJECTIVES: The aim of this case report was to investigate the contribution of the gene mutation to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31803976
DOI: 10.1111/jdv.16134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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