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Article

[Audiological phenotypes of KBG syndrome: a case report and literatures review].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Oct 2022

Su Wenwen, Xia Yuqi, Xia Caifeng, Liu Yuhe

Abstract excerpt

KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene. The patient, who has a series of symptoms including hearing loss, short stature, macrodontia of upper central incisors and mental retardation, was diagnosed with KBG syndrome. Pure tone audiometry showed bilateral conductive hearing loss, the temporal bone CT suggested there were...

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Identifiers

PMID: 36217662
DOI: 10.13201/j.issn.2096-7993.2022.10.014
PMCID: PMC10128557

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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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