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Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho, Oscar F; Lopez-Moreno, Daniel; Morales-Sanchez, Martha A; Hofmann, Enriqueta; Pacheco-Quito, Michelle; Wieland, Ilse; Cortes-Gonzalez, Vianney; Villanueva-Mendoza, Cristina; Zenker, Martin; Zenteno, Juan Carlos.
Afiliação
  • Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Lopez-Moreno D; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Morales-Sanchez MA; "Dr. Ladislao de la Pascua" Dermatologic Center, Mexico City, Mexico.
  • Hofmann E; Department of Glaucoma, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Pacheco-Quito M; Department of Glaucoma, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Wieland I; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Cortes-Gonzalez V; Department of Genetics, Hospital "Dr. Luis Sanchez Bulnes", Asociación para Evitar la Ceguera en México, Mexico City, Mexico.
  • Villanueva-Mendoza C; Department of Genetics, Hospital "Dr. Luis Sanchez Bulnes", Asociación para Evitar la Ceguera en México, Mexico City, Mexico.
  • Zenker M; Institute of Human Genetics, University Hospital, Magdeburg, Germany.
  • Zenteno JC; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Mol Genet Genomic Med ; 7(5): e625, 2019 05.
Article em En | MEDLINE | ID: mdl-30891959
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Displasia Ectodérmica / Síndromes Neurocutâneas / Cisto Dermoide / Receptor Tipo 1 de Fator de Crescimento de Fibroblastos / Oftalmopatias / Nevo Sebáceo de Jadassohn / Lipomatose Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Displasia Ectodérmica / Síndromes Neurocutâneas / Cisto Dermoide / Receptor Tipo 1 de Fator de Crescimento de Fibroblastos / Oftalmopatias / Nevo Sebáceo de Jadassohn / Lipomatose Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article