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Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
Leoni, Chiara; Gordon, Christopher T; Della Marca, Giacomo; Giorgio, Valentina; Onesimo, Roberta; Perrino, Francesca; Cianfoni, Alessandro; Cerchiari, Antonella; Amiel, Jeanne; Zampino, Giuseppe.
Afiliación
  • Leoni C; Department of Pediatrics, Center for Rare Diseases, Catholic University, Rome, Italy.
  • Gordon CT; INSERM UMR 1163 and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Della Marca G; Department of Neurosciences, Catholic University, Rome, Italy.
  • Giorgio V; Department of Pediatrics, Center for Rare Diseases, Catholic University, Rome, Italy.
  • Onesimo R; Department of Pediatrics, Center for Rare Diseases, Catholic University, Rome, Italy.
  • Perrino F; Department of Pediatrics, Center for Rare Diseases, Catholic University, Rome, Italy.
  • Cianfoni A; Neuroradiology-Neurocenter Southern Switzerland, Lugano, Switzerland.
  • Cerchiari A; Department of Neuroscience and Neurorehabilitation, Speech Language Pathology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
  • Amiel J; INSERM UMR 1163 and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Zampino G; APHP, Hôpital Necker-Enfants Malades, Paris, France.
Am J Med Genet A ; 170(6): 1471-8, 2016 06.
Article en En | MEDLINE | ID: mdl-27007857
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Oído / Enfermedades del Oído / Fosfolipasa C beta / Estudios de Asociación Genética / Homocigoto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Oído / Enfermedades del Oído / Fosfolipasa C beta / Estudios de Asociación Genética / Homocigoto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia