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Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene.
Batu Oto, Bilge; Agirbasli, Deniz; Kiliçarslan, Oguzhan; Celik, Gökhan; Kalayci Yigin, Aysel; Seven, Mehmet; Yetik, Hüseyin.
Afiliação
  • Batu Oto B; Department of Ophthalmology, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
  • Agirbasli D; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
  • Kiliçarslan O; Department of Ophthalmology, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
  • Celik G; Department of Ophthalmology, ROP Screening, Treatment and Training Center, Zeynep Kamil Maternity and Children's Disease Training and Research Hospital, Istanbul, Turkey.
  • Kalayci Yigin A; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
  • Seven M; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
  • Yetik H; Department of Ophthalmology, Cerrahpasa Medical Faculty, Istanbul University- Cerrahpasa, Istanbul, Turkey.
Ophthalmic Genet ; 44(1): 70-73, 2023 02.
Article em En | MEDLINE | ID: mdl-35930384

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Nanismo / Hipotricose Limite: Humans / Male Idioma: En Revista: Ophthalmic Genet Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Nanismo / Hipotricose Limite: Humans / Male Idioma: En Revista: Ophthalmic Genet Ano de publicação: 2023 Tipo de documento: Article