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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov, Lev; Ullah, Ehsan; Turriff, Amy E; Warner, Blake M; Conley, Julie; Mark, Paul R; Hufnagel, Robert B; Huryn, Laryssa A.
  • Prasov L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Ullah E; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.
  • Turriff AE; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
  • Warner BM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Conley J; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Mark PR; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
  • Hufnagel RB; Section of Pediatric Ophthalmology, Helen DeVos Children's Hospital, Grand Rapids, Michigan.
  • Huryn LA; Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan.
Am J Med Genet A ; 182(3): 493-497, 2020 03.
Article en En | MEDLINE | ID: mdl-32022389
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Disomía Uniparental / Proteínas de Transporte de Catión / Distrofias de Conos y Bastones / Amelogénesis Imperfecta Tipo de estudio: Diagnostic_studies / Guideline Límite: Adolescent / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Disomía Uniparental / Proteínas de Transporte de Catión / Distrofias de Conos y Bastones / Amelogénesis Imperfecta Tipo de estudio: Diagnostic_studies / Guideline Límite: Adolescent / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article