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Updated: May 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report

Rayad B Shams1,2, Elizabeth L Nieman2, Yezmin Perilla-Young3

  • 1University of North Carolina Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.

American Journal of Medical Genetics. Part A
|April 10, 2025
PubMed
Abstract

Keywords:
ENOSF1TYMScase reportdyskeratosis congenitamonosomy 18ring chromosome 18telomere

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