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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
Pedroza, Luis Alberto; Guerrero, Nina; Stray-Pedersen, Asbjørg; Tafur, Cristina; Macias, Roque; Muñoz, Greta; Akdemir, Zeynep Coban; Jhangiani, Shalini N; Watkin, Levi B; Chinn, Ivan K; Lupski, James R; Orange, Jordan S.
Afiliación
  • Pedroza LA; Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito, Quito, Ecuador; Instituto de Microbiología, Universidad San Francisco de Quito, Quito, Ecuador.
  • Guerrero N; Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito , Quito , Ecuador.
  • Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
  • Tafur C; Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
  • Macias R; Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
  • Muñoz G; Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
  • Akdemir ZC; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
  • Watkin LB; Center for Human Immunobiology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
  • Chinn IK; Center for Human Immunobiology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
  • Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, U
  • Orange JS; Center for Human Immunobiology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Front Pediatr ; 5: 17, 2017.
Article en En | MEDLINE | ID: mdl-28239602
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies País/Región como asunto: America do sul / Ecuador Idioma: En Revista: Front Pediatr Año: 2017 Tipo del documento: Article País de afiliación: Ecuador
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies País/Región como asunto: America do sul / Ecuador Idioma: En Revista: Front Pediatr Año: 2017 Tipo del documento: Article País de afiliación: Ecuador