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Article

In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy.

Fetal diagnosis and therapy - 1 Jan 2000

Quintero R A, Morales W J, Gilbert-Barness E, Claus J, Bornick P W, Allen M H, Ackerman J, Koussef B

Abstract excerpt

OBJECTIVE: To describe the prenatal diagnosis of trichothiodystrophy (TTD) through endoscopically-guided fetal eyebrow biopsy. MATERIALS AND METHODS: A 32-year-old patient, gravida 4, para 3, with a history of 2 previous infants affected with TTD was referred at 17(5)/(7) weeks for fetal hair biopsy. DNA repair studies had been normal in the previous children. Four 1-mm biopsies were obtained from the external...

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PMID: 10781999
DOI: 10.1159/000020995

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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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