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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia, Francesca; Fontana, Paolo; Paglia, Pamela; Falco, Mariateresa; Rosano, Carmen; Piscopo, Carmelo; Cappuccio, Gerarda; Siano, Maria Anna; De Brasi, Daniele; Mandato, Claudia; De Maggio, Ilaria; Squeo, Gabriella Maria; Monica, Matteo Della; Scarano, Gioacchino; Lonardo, Fortunato; Strisciuglio, Pietro; Merla, Giuseppe; Melis, Daniela.
  • Di Candia F; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy.
  • Fontana P; Medical Genetics Unit, San Pio Hospital, Benevento, Italy.
  • Paglia P; Pediatric Unit, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", (Salerno), Baronissi, Italy.
  • Falco M; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Via San Leonardo, 1 - 84131, Salerno, Italy.
  • Rosano C; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy.
  • Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy.
  • Cappuccio G; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy.
  • Siano MA; Pediatric Unit, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", (Salerno), Baronissi, Italy.
  • De Brasi D; Department of Pediatrics, AORN Santobono-Pausilipon, Napoli, Italy.
  • Mandato C; Department of Pediatrics, AORN Santobono-Pausilipon, Napoli, Italy.
  • De Maggio I; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy.
  • Squeo GM; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Monica MD; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy.
  • Scarano G; Medical Genetics Unit, San Pio Hospital, Benevento, Italy.
  • Lonardo F; Medical Genetics Unit, San Pio Hospital, Benevento, Italy.
  • Strisciuglio P; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy.
  • Merla G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Melis D; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy. dmelis@unisa.it.
Eur J Pediatr ; 181(1): 171-187, 2022 Jan.
Article en En | MEDLINE | ID: mdl-34232366
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Enfermedades Hematológicas Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Enfermedades Hematológicas Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article