Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report

• Главные авторы: Pooneh Nikuei (Автор), Ph.D (Автор), Zahra Khashavy (Автор), Mohammad Ali Farazi Fard (Автор), Shahrzad Tabasi4 Pharm.D. Student (Автор), Ari Zeidi5 B.Sc. Student (Автор), Parnian Pourkashani (Автор), Zahra Tabatabaei (Автор), Ebrahim Eftekhar (Автор), Mozhgan Saberi (Автор), Frouzandeh Mahjoubi (Автор)
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• Опубликовано: Shahid Sadoughi University of Medical Sciences, 2023-09-01T00:00:00Z.
• Предметы: article
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Abstract Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 mutations could result in severe ocular phenotypes usually associated with variable systemic defects. Most patients described with...