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Article

Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

American journal of medical genetics. Part A - 1 Aug 2024

Wu Ruohao, Tang Wenting, Li Pinggan, Meng Zhe, Li Xiaojuan, Liang Liyang

Abstract excerpt

De novo germline variants of the SRY-related HMG-box 11 gene (SOX11) have been reported to cause Coffin-Siris syndrome-9 (CSS-9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have...

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Identifiers

PMID: 38591849
DOI: 10.1002/ajmg.a.63626

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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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