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

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 SOX2 anop...

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Detalles Bibliográficos
Autores principales: Nikuei, Pooneh, Ph.D., Khashavy, Zahra, Ali Farazi Fard, Mohammad, Tabasi, Shahrzad, Zeidi5 B.Sc. Student, Ari, Pourkashani, Parnian, Tabatabaei, Zahra, Eftekhar, Ebrahim, Saberi, Mozhgan, Mahjoubi, Frouzandeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Knowledge E 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598473/
https://www.ncbi.nlm.nih.gov/pubmed/37885978
http://dx.doi.org/10.18502/ijrm.v21i8.14022

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