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MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio, Jair; Alarcón, Pablo; Arias, Pedro; Ramos, Feliciano J; Campistol, Jaume; Climent, Salvador; García-Miñaur, Sixto; Dapía, Irene; Hernández, Alicia; Nevado, Julián; Solís, Mario; Ruiz-Pérez, Víctor L; Lapunzina, Pablo.
  • Tenorio J; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.
  • Alarcón P; CIBERER, CIBERER, Center for Networking Biomedical Research of Rare Diseases, Madrid, Spain.
  • Arias P; Genetic Section, Hospital Clínico Universidad de Chile, Santiago, Chile.
  • Ramos FJ; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.
  • Campistol J; CIBERER, CIBERER, Center for Networking Biomedical Research of Rare Diseases, Madrid, Spain.
  • Climent S; Clinical Genetics Unit, Service of Paediatrics, University Hospital "Lozano Blesa", University of Zaragoza School of Medicine, Zaragoza, Spain.
  • García-Miñaur S; Neurology Unit, Hospital Sant Joan de Deu - Passeig Sant Joan de Déu, Barcelona, Spain.
  • Dapía I; Pediatrics Unit, Hospital General de Ontinyent, Valencia, Spain.
  • Hernández A; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.
  • Nevado J; CIBERER, CIBERER, Center for Networking Biomedical Research of Rare Diseases, Madrid, Spain.
  • Solís M; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.
  • Ruiz-Pérez VL; CIBERER, CIBERER, Center for Networking Biomedical Research of Rare Diseases, Madrid, Spain.
  • Lapunzina P; CIBERER, CIBERER, Center for Networking Biomedical Research of Rare Diseases, Madrid, Spain.
Clin Genet ; 95(6): 726-731, 2019 06.
Article en En | MEDLINE | ID: mdl-30628072
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Discapacidad Intelectual Ligada al Cromosoma X / Megalencefalia Tipo de estudio: Guideline Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Discapacidad Intelectual Ligada al Cromosoma X / Megalencefalia Tipo de estudio: Guideline Límite: Adolescent / Adult / Child / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article