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Article

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.

PloS one - 1 Jan 2022

Kakar Mohib Ullah, Akram Muhammad, Zubair Mehboob Muhammad, Younus Muhammad, Bilal Muhammad, Waqas Ahmed, Nazir Amina, Shafi Muhammad, Umair Muhammad, Ahmad Sajjad, Rafeeq Misbahuddin M

Abstract excerpt

Hearing impairment (HI) is a heterogeneous condition that affects many individuals globally with different age groups. HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the current study, two affected...

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Share to Deafness
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Homozygote

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Share to Mutation, Missense

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Source

Open in PubMed Open full text

Identifiers

PMID: 35709191
DOI: 10.1371/journal.pone.0268078
PMCID: PMC9202841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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