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Article

Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.

Human mutation - 1 Dec 2022

Zhang Yuying, Li Jian, Ji Yaoting, Cheng Yibin, Fu Xiazhou

Abstract excerpt

We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a hitherto undescribed class of patients with unique craniofacial developmental defects. The nine unrelated patients represent unilateral soft palate hypoplasia, lost part of the sphenoid bone in the pterygoid process, but the uvula developed completely. Interestingly, these clinical features are contrary to the palate's...

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PMID: 36124393
DOI: 10.1002/humu.24473

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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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