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Article

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

European journal of human genetics : EJHG - 1 Apr 2009

Hmani-Aifa Mounira, Benzina Zeineb, Zulfiqar Fareeha, Dhouib Houria, Shahzadi Amber, Ghorbel Abdelmonem, Rebaï Ahmed, Söderkvist Peter, Riazuddin Sheikh, Kimberling William J, Ayadi Hammadi

Abstract excerpt

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disorder. ARRP could be associated with extraocular manifestations that define specific syndromes such as Usher syndrome (USH) characterized by retinal degeneration and congenital hearing loss (HL). The USH type II (US...

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Identifiers

PMID: 18854872
DOI: 10.1038/ejhg.2008.167
PMCID: PMC2986209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18854872-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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