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Natural history of non-lethal Raine syndrome during childhood.
Mameli, Chiara; Zichichi, Giulia; Mahmood, Nasim; Elalaoui, Siham Chafai; Mirza, Adnan; Dharmaraj, Poonam; Burrone, Marco; Cattaneo, Elisa; Sheth, Jayesh; Gandhi, Ajit; Kochar, Gurpreet Singh; Alkuraya, Fowzan Sami; Kabra, Madhulika; Mercurio, Giuseppe; Zuccotti, Gianvincenzo.
Afiliação
  • Mameli C; Department of Pediatrics, Vittore Buzzi Children's Hospital, Department of Biomedical and Clinical Science L. Sacco, Università degli Studi di Milano, Milan, Italy. chiara.mameli@unimi.it.
  • Zichichi G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Mahmood N; Department of General Paediatrics, Alder Hey Children's Hospital, Liverpool, UK.
  • Elalaoui SC; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Mirza A; Faculty of Paediatrics, Aga Khan University Hospital, Karachi, Pakistan.
  • Dharmaraj P; Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
  • Burrone M; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Cattaneo E; Clinical Genetics Service, V. Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Sheth J; FRIGE-Institute of Human Genetics, Dept of Biochemical and Molecular Genetics, Ahmadabad, Gujarat, and Unique Hospital, Solapur, India.
  • Gandhi A; FRIGE-Institute of Human Genetics, Dept of Biochemical and Molecular Genetics, Ahmadabad, Gujarat, and Unique Hospital, Solapur, India.
  • Kochar GS; Department of Paediatric Neurology, SPS Hospitals, Ludhiana, Punjab, India.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kabra M; Division of Genetics, Department of Paediatrics, AIIMS, New Delhi, India.
  • Mercurio G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Zuccotti G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Department of Biomedical and Clinical Science L. Sacco, Università degli Studi di Milano, Milan, Italy.
Orphanet J Rare Dis ; 15(1): 93, 2020 04 16.
Article em En | MEDLINE | ID: mdl-32299476

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteosclerose / Exoftalmia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteosclerose / Exoftalmia Idioma: En Ano de publicação: 2020 Tipo de documento: Article