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Article

Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.

Ophthalmic research - 1 Jan 2022

Azhar Baig Hafiz Muhammad, Ansar Muhammad, Iqbal Afia, Naeem Muhammad Asif, Quinodoz Mathieu, Calzetti Giacomo, Iqbal Muhammad, Rivolta Carlo

Abstract excerpt

INTRODUCTION: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all...

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Identifiers

PMID: 34781300
DOI: 10.1159/000520895

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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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