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Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Garavelli, Livia; Maini, Ilenia; Baccilieri, Federica; Ivanovski, Ivan; Pollazzon, Marzia; Rosato, Simonetta; Iughetti, Lorenzo; Unger, Sheila; Superti-Furga, Andrea; Tartaglia, Marco.
  • Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it.
  • Maini I; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Baccilieri F; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Pollazzon M; Department of Surgical, Medical, Dental and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Rosato S; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Iughetti L; Clinical Genetics Unit, Department of Obstetrics and Paediatrics, IRCCS, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
  • Unger S; Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy.
  • Superti-Furga A; Medical Genetics Service, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
  • Tartaglia M; Department of Paediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.
Eur J Pediatr ; 175(10): 1307-15, 2016 Oct.
Article en En | MEDLINE | ID: mdl-27562837
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Mutación Missense / Criptorquidismo / Proteína Smad4 / Trastornos del Crecimiento / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de la Mano / Mutación Missense / Criptorquidismo / Proteína Smad4 / Trastornos del Crecimiento / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article