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Article

22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome.

European journal of ophthalmology - 1 Jul 2021

Zhang Wenqiu, Xiao Lirong, Chen Bingjie, Xu Yingwen, Yan Naihong

Abstract excerpt

PURPOSE: To identify disease associated mutations in a male infant with congenital heart defects and heterochromia. METHODS: A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members. RESULTS: The patient presented with severe congenital heart disease, strabismus, and pigment...

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Source

Identifiers

PMID: 32703023
DOI: 10.1177/1120672120944350

Provenance

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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