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Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Chaudhry, Ayeshah; Sabatini, Peter; Han, Liping; Ray, Peter N; Forrest, Christopher; Bowdin, Sarah.
Afiliação
  • Chaudhry A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Sabatini P; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Han L; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ray PN; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Forrest C; Division of Plastic and Reconstructive Surgery, Centre for Craniofacial Careand Research, The Hospital for Sick Children.
  • Bowdin S; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet A ; 167A(11): 2544-7, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26097063
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Suturas Cranianas / Craniossinostoses / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Suturas Cranianas / Craniossinostoses / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article