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Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini, Emanuele; Cherchi, Claudio; Bellacchio, Emanuele; Martinelli, Diego; Cocciadiferro, Dario; Cutrera, Renato; Chiarini Testa, Maria B; Barone, Chiara; Bianca, Sebastiano; Novelli, Antonio.
Afiliação
  • Agolini E; Laboratory of Medical Genetics Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Cherchi C; Respiratory Unit, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Cocciadiferro D; Laboratory of Medical Genetics Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Cutrera R; Respiratory Unit, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Chiarini Testa MB; Respiratory Unit, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Barone C; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.
  • Bianca S; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.
  • Novelli A; Laboratory of Medical Genetics Unit, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Clin Genet ; 97(4): 649-654, 2020 04.
Article em En | MEDLINE | ID: mdl-31846058
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article