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Article

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

PloS one - 1 Jan 2020

Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair M

Abstract excerpt

Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa (RP), segregating in four large consanguineous Pakistani families. The exome sequencing followed by segregation analysis via Sanger sequencing revealed the LCA...

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Identifiers

PMID: 32976546
DOI: 10.1371/journal.pone.0239748
PMCID: PMC7518604

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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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