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Article

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

International journal of pediatric otorhinolaryngology - 1 Dec 2017

Bianchi Pier Marco, Bianchi Alessandra, Digilio Maria Cristina, Tucci Filippo Maria, Sitzia Emanuela, De Vincentiis Giovanni Carlo

Abstract excerpt

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological...

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Identifiers

PMID: 29224748
DOI: 10.1016/j.ijporl.2017.10.017

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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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Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.PMID 29224748Read ↗

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