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Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.
Batalla, Ana; Iglesias-Puzas, Álvaro; Freire-Bruno, José; Herrero-Hermida, Javier; Flórez, Ángeles.
Afiliação
  • Batalla A; Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
  • Iglesias-Puzas Á; Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
  • Freire-Bruno J; Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
  • Herrero-Hermida J; Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
  • Flórez Á; Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
Pediatr Dermatol ; 35(5): e268-e271, 2018 Sep.
Article em En | MEDLINE | ID: mdl-29968256
ABSTRACT
A few genotype-phenotype correlations have been described in type 1 neurofibromatosis. One deletion, p.Met992del, seems to be responsible for a mild form of the condition, in which there is absence of externally visible neurofibromas. We report a mother and a son with this mutation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibromina 1 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibromina 1 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article