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Article

[Identification of a novel mutation of SOX10 gene and analysis of the phenotype].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Nov 2020

Zhang Q J, Lan L, Xie L Y, Zhao C, Guan J, Wang Q J

Abstract excerpt

Objective: To explore the clinical features and pathogenic mechanisms of a special syndrome with congenital sensorineural hearing loss, albinism, heterochromia iridis, nystagmus and myelin dysplasia. Methods: Detailed medical history, systematic audiology tests, ophthalmic and neurological examinations were carried out to analyze the clinical features of the child, and further molecular genetic tests including...

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Source

Identifiers

PMID: 33210885
DOI: 10.3760/cma.j.cn115330-20200122-00044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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