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Article

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.

European journal of human genetics : EJHG - 1 Nov 2016

Schilit Samantha Lp, Currall Benjamin B, Yao Ruen, Hanscom Carrie, Collins Ryan L, Pillalamarri Vamsee, Lee Dong-Young, Kammin Tammy, Zepeda-Mendoza Cinthya J, Mononen Tarja, Nolan Lisa S, Gusella James F, Talkowski Michael E, Shen Jun, Morton Cynthia C

Abstract excerpt

Analysis of chromosomal rearrangements has been highly successful in identifying genes involved in many congenital abnormalities including hearing loss. Herein, we report a subject, designated DGAP242, with congenital hearing loss (HL) and a de novo balanced translocation 46,XX,t(1;5)(q32;q15)dn. Using multiple next-generation sequencing techniques, we obtained high resolution of the breakpoints. This revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27381092
DOI: 10.1038/ejhg.2016.64
PMCID: PMC5110062

Genes

ESRRG

Provenance

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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