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Article

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

International journal of pediatric otorhinolaryngology - 1 Nov 2012

Šafka Brožková Dana, Laštůvková Jana, Machalová Eliška, Lisoňová Jana, Trková Marie, Seeman Pavel

Abstract excerpt

OBJECTIVES: Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL. PATIENTS AND METHODS: A consanguineous Czech family with a child with NSHL was genotyped using SNP array and homozygous regions were compared with previously reported...

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Source

Identifiers

PMID: 22951369
DOI: 10.1016/j.ijporl.2012.08.006

Genes

ESRRB
GRXCR1

Provenance

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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DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.PMID 22951369Read ↗

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