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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty, Bhavana; Martin-Giacalone, Bailey A; Zhao, Xiaonan; Luna, Pamela N; Brooks, Brian P; Hufnagel, Robert B; Shaw, Chad A; Rosenfeld, Jill A; Agopian, A J; Lupo, Philip J; Scott, Daryl A.
Afiliación
  • Kunisetty B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Martin-Giacalone BA; Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, United States.
  • Zhao X; Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States.
  • Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Brooks BP; Baylor Genetics, Houston, Texas, United States.
  • Hufnagel RB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Shaw CA; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, United States.
  • Rosenfeld JA; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, United States.
  • Agopian AJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Lupo PJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Scott DA; Department of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States.
Invest Ophthalmol Vis Sci ; 65(3): 25, 2024 Mar 05.
Article en En | MEDLINE | ID: mdl-38502138

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anoftalmos / Coloboma / Microftalmía Límite: Animals / Humans Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anoftalmos / Coloboma / Microftalmía Límite: Animals / Humans Idioma: En Revista: Invest Ophthalmol Vis Sci Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos