Article
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.
Ophthalmic genetics - 1 Aug 2026
El-Dessouky Sara H, Sharaf-Eldin Wessam E, Aboulghar Mona M, Aref Haissam, Senousy Sameh M, Maher Mohamed A, Harms Frederike L, Matsa Lova S, Ezz Elarab Ahmed, Ateya Mohamed I, Mobarak Mostafa H, Zolfokar Dalia S, Abdelmohsen Asmaa E, Abdel-Aziz Nahla N, Issa Mahmoud Y, Ahmed Adel H, Soliman Samar H, Elmakkawy Gehad A, Elhady Ghada M, Eid Maha M, Zaki Maha S, Schorderet Daniel, Kutsche Kerstin, Abdalla Ebtesam M
Abstract excerpt
PURPOSE: Anophthalmia and microphthalmia (A/M) are among the most severe developmental eye defects. The aim of this study is to describe the genetic landscape of fetal syndromic phenotypes that include A/M. METHODS: We recruited 31 fetuses who underwent prenatal ultrasound examination, postnatal assessment, quantitative fluorescent PCR (QF-PCR) and prenatal exome sequencing (pES). RESULTS: All cases displayed A/M...
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