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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O'Sullivan, James; Clayton-Smith, Jill.
Afiliação
  • Ashton CJ; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester.
  • Perveen R; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom.
  • Beaman G; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom.
  • Crisponi G; Centro per lo Studio delle Malformazioni Congenite and Servizio di Puericultura, Università di Cagliari, Cagliari, Italy.
  • González-Del Angel A; Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Ciudad de México, México.
  • Garza-Mayén G; Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Ciudad de México, México.
  • Alcántara-Ortigoza MA; Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Ciudad de México, México.
  • O'Sullivan J; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester.
  • Clayton-Smith J; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester.
Clin Dysmorphol ; 32(1): 7-13, 2023 Jan 01.
Article em En | MEDLINE | ID: mdl-36503917

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Hipertelorismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenda Labial / Fissura Palatina / Hipertelorismo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2023 Tipo de documento: Article