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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 (USH2) associates RP and mild-to-moderate HL with preserved vestibular function. At least three genes USH2A, the very...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cyclic Nucleotide Phosphodiesterases, Type 6

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Source

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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