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Article

[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Feb 2023

Lin Zuanping, Tang Jie, Yun Lu, Zhou Kai, Huang Lancheng, Qu Shenhong, Wang Tao, Mo Jingqun, Li Fengti, Tang Fengzhu

Abstract excerpt

Objective:To analyze the molecular genetics and clinical characteristics of 3 children with syndromic deafness were analyzed to clarify their causative genes and genetic characteristics. Methods:The medical records of 3 children and their parents were collected and analyzed, including physical examination, hearing evaluation, temporal bone CT, and cranial MRI. Whole-exome sequencing（WES） was used to screen for...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36756824
DOI: 10.13201/j.issn.2096-7993.2023.02.006
PMCID: PMC10208873

Provenance

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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