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Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Macchiaiolo, Marina; Panfili, Filippo Maria; Gonfiantini, Michaela Veronika; Mastrogiorgio, Gerarda; Buonuomo, Paola Sabrina; Gaspari, Stefania; Longo, Daniela; Zollino, Marcella; Bartuli, Andrea.
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  • Macchiaiolo M; Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Panfili FM; Pediatric Academic Department, University of Rome Tor Vergata, Rome, Italy.
  • Gonfiantini MV; Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Mastrogiorgio G; Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Buonuomo PS; Rare Diseases and Genetic Unit, University Department of Paediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Gaspari S; Hematology/Oncology, Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Longo D; Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zollino M; Fondazione Policlinico Universitario A. Gemelli, IRCCS, UOC Genetica, Rome, Italy.
  • Bartuli A; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Rome, Italy.
Am J Med Genet A ; 182(11): 2746-2750, 2020 11.
Article en En | MEDLINE | ID: mdl-32945094
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Histiocitosis de Células de Langerhans / Factor de Transcripción 4 / Hiperventilación / Discapacidad Intelectual / Mutación Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Histiocitosis de Células de Langerhans / Factor de Transcripción 4 / Hiperventilación / Discapacidad Intelectual / Mutación Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia