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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela, Malena; Jani, Priyam; Zein, Wadih M; D'Souza, Precilla; Wolfe, Lynne; Chisholm, Jennifer; Zalewski, Christopher; Adams, David; Warner, Blake M; Huryn, Laryssa A; Hufnagel, Robert B.
Afiliación
  • Daich Varela M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • Jani P; National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
  • D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Wolfe L; Undiagnosed Diseases Program, Common Fund, NIH, Bethesda, Maryland, USA.
  • Chisholm J; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.
  • Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.
  • Adams D; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
  • Warner BM; Undiagnosed Diseases Program, Common Fund, NIH, Bethesda, Maryland, USA.
  • Huryn LA; National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Am J Med Genet C Semin Med Genet ; 184(3): 618-630, 2020 09.
Article en En | MEDLINE | ID: mdl-32866347
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Peroxisomal / Amelogénesis Imperfecta / ATPasas Asociadas con Actividades Celulares Diversas / Pérdida Auditiva Sensorineural / Proteínas de la Membrana / Uñas Malformadas Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Imprimir
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno Peroxisomal / Amelogénesis Imperfecta / ATPasas Asociadas con Actividades Celulares Diversas / Pérdida Auditiva Sensorineural / Proteínas de la Membrana / Uñas Malformadas Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos