Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.

doi:10.3390/biom16081219

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Article

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.

Biomolecules - 21 Aug 2026

Rabinovich Yakov, Vardizer Yoav, Pincovich Shirley, Wolowelsky Marva, Kulyamzin Sofia, Ehrenberg Miriam, Zayit-Soudry Shiri, Man Peles Inbal, Leibu Rina, Goldenberg-Cohen Nitza, Ben-Yosef Tamar

Abstract excerpt

Microphthalmia, anophthalmia and ocular coloboma (MAC) are rare developmental eye disorders. Although over 100 causative genes have been identified, the molecular spectrum and genotype-phenotype correlations remain incompletely understood, particularly in genetically diverse populations. We set out to molecularly characterize MAC in the Israeli population. Forty-seven MAC-affected individuals from 43 unrelated...

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