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Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.
Rafati, Maryam; Mohamadhashem, Faezeh; Jalilian, Koosha; Hoseininasab, Fatemeh; Fakhri, Laya; Hoseini, Azadeh; Amiri, Hosna; Barati, Zeinab; Darzi Ramandi, Somayeh; Mostofinezhad, Nioosha; Mahmoudi, Amir Hosein; Ghaffari, Saeed Reza.
Afiliación
  • Rafati M; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
  • Mohamadhashem F; Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
  • Jalilian K; Department of Genomics Gene Clinic, Tehran, Iran.
  • Hoseininasab F; Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
  • Fakhri L; Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran.
  • Hoseini A; Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
  • Amiri H; Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
  • Barati Z; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
  • Darzi Ramandi S; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
  • Mostofinezhad N; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
  • Mahmoudi AH; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
  • Ghaffari SR; Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran.
Ophthalmic Genet ; 43(2): 262-267, 2022 04.
Article en En | MEDLINE | ID: mdl-34791963
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Microftalmía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Irán
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Microftalmía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Irán