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Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
Zoullas, Sofia; Morel, Dayna; Zafeer, Faraz; Borjas-Mendoza, Paulo; Angeli, Simon; Zhou, Yi; Bademci, Guney; Tekin, Mustafa.
Afiliación
  • Zoullas S; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Morel D; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Zafeer F; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Borjas-Mendoza P; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Angeli S; Department of Otolaryngology, University of Miami, Miami, Florida, USA.
  • Zhou Y; Department of Pathology, University of Miami, Miami, Florida, USA.
  • Bademci G; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
  • Tekin M; Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Am J Med Genet A ; 194(4): e63481, 2024 Apr.
Article en En | MEDLINE | ID: mdl-37984424
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eritrodermia Ictiosiforme Congénita / Pérdida Auditiva Sensorineural / Ictiosis / Errores Innatos del Metabolismo Lipídico / Enfermedades Musculares Límite: Female / Humans / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eritrodermia Ictiosiforme Congénita / Pérdida Auditiva Sensorineural / Ictiosis / Errores Innatos del Metabolismo Lipídico / Enfermedades Musculares Límite: Female / Humans / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos