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Article

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.

Audiology & neuro-otology - 1 Jan 2021

Bałdyga Natalia, Sarosiak Anna, Oziębło Dominika, Furmanek Mariusz, Szulborski Kamil, Szaflik Jacek P, Skarżyński Henryk, Ołdak Monika

Abstract excerpt

BACKGROUND: Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form. OBJECTIVE: The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria. METHODS AND RESULTS: After sequencing of clinical exome,...

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Identifiers

PMID: 33352548
DOI: 10.1159/000510695

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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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