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Article

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Ophthalmic genetics - 1 Dec 2017

Mameesh Maha, Ganesh Anuradha, Harikrishna Beena, Al Zuhaibi Sana, Scott Patrick, Al Kalbani Sami, Al Thihli Khalid

Abstract excerpt

AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior...

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Source

Identifiers

PMID: 28511025
DOI: 10.1080/13816810.2017.1323340

Genes

MFRP

Provenance

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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