Article

Prenatal Diagnosis of Trichothiodystrophy Associated with a Novel ERCC2 Variant: Expanding the Genotype–Phenotype Spectrum— a case report

2026-08-25

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Trichothiodystrophy (TTD), an ultrarare autosomal recessive genetic disorder, is characterized by brittle hair, photosensitivity, ichthyosis, and a broad spectrum of multisystem manifestations; however, prenatal diagnosis remains challenging due to the absence of characteristic fetal structural anomalies. <bold>Case Presentation:</bold> We present a case of...

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Literature Corpus work: 8b00b123-36e6-5a9d-9f19-d4ba186e0536
DOI: 10.21203/rs.3.rs-10176496/v1

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