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Article

Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.

Molecular vision - 1 Jan 2026

Elmakkawy Gehad, Nabil Amira, Nabil Karim, Amin Asmaa Kenawy, Maskill David, Ali Manir, Schorderet Daniel, Bayoumi Nader, Shakankiri Nihal, Abdalla Ebtesam

Abstract excerpt

Purpose: The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. Methods: We studied a cohort of 34 patients from 31 unrelated families affected by the A/M spectrum. All patients underwent a thorough clinical examination, ophthalmological assessment, and genetic testing including conventional karyotyping and exome sequencing (ES)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41953648
PMCID: PMC13056010

Genes

DPH1
ATOH7
B3GALNT2
CHD7
FRAS1
GCNT2
GJA8
HMX1
OTX2
PRR12
SOX2
UBE3B
ZBTB11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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