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A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report.
Vieta-Ferrer, Emile R; Ullah, Ehsan; Blain, Delphine; Christensen, Julie A; Brewer, Carmen C; Balow, James E; George, Aman; Hufnagel, Robert B; Cogliati, Tiziana; Brooks, Brian P.
Afiliação
  • Vieta-Ferrer ER; Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Ullah E; Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Blain D; Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Christensen JA; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Brewer CC; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Balow JE; Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • George A; Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Hufnagel RB; Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Cogliati T; Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Brooks BP; Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Ophthalmic Genet ; 44(2): 182-185, 2023 04.
Article em En | MEDLINE | ID: mdl-36951427
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coloboma / Insuficiência Renal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Coloboma / Insuficiência Renal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2023 Tipo de documento: Article