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A Novel Pathogenic Variant in POLR1D (c.220dup, p.His74ProfsTer8) Causes Treacher Collins Syndrome Type 2 in a Chinese Patient：A Case Report

2025-08-28

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction:</bold> Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic disorder of craniofacial development caused by pathogenic variants in the <italic>POLR1D</italic> gene. The characteristic clinical features include downward-slanting palpebral fissures, micrognathia, hypoplastic zygomatic arches, lower eyelid coloboma, and malformations of the extern...

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Literature Corpus work: 92ce828b-4f5a-5142-8a34-209c49eff6c4
DOI: 10.21203/rs.3.rs-7108613/v1

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