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The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Villafuerte, Beatriz; Natera-de-Benito, Daniel; González, Aidy; Mori, María A; Palomares, María; Nevado, Julián; García-Miñaur, Sixto; Lapunzina, Pablo; González-Granado, Luis I; Allende, Luis M; Moreno, José C.
Afiliación
  • Villafuerte B; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain.
  • Natera-de-Benito D; Pediatrics Department, Fuenlabrada University Hospital, Madrid, Spain.
  • González A; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain.
  • Mori MA; Functional and Structural Genomics, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain.
  • Palomares M; Functional and Structural Genomics, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain.
  • Nevado J; Functional and Structural Genomics, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain.
  • García-Miñaur S; Clinical Genetics Unit, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain.
  • Lapunzina P; Clinical Genetics Unit, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain.
  • González-Granado LI; Immunodeficiency Unit, Pediatrics Department, 12 de Octubre University Hospital, Madrid, Spain.
  • Allende LM; Immunology Department, 12 de Octubre University Hospital, Madrid, Spain.
  • Moreno JC; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain. Electronic address: josecarlos.moreno@salud.ma
Eur J Med Genet ; 61(7): 393-398, 2018 Jul.
Article en En | MEDLINE | ID: mdl-29477862
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Dificultad Respiratoria del Recién Nacido / Atetosis / Cromosomas Humanos Par 14 / Corea / Hipotiroidismo Congénito / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: España Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Dificultad Respiratoria del Recién Nacido / Atetosis / Cromosomas Humanos Par 14 / Corea / Hipotiroidismo Congénito / Síndromes de Inmunodeficiencia Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: España Pais de publicación: Países Bajos