Your browser doesn't support javascript.
loading
Craniosynostosis is a feature of Costello syndrome.
Weaver, K Nicole; Care, Marguerite; Wakefield, Emily; Zarate, Yuri A; Skoch, Jesse; Gripp, Karen W; Prada, Carlos E.
  • Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Care M; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
  • Wakefield E; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
  • Zarate YA; Department of Radiology, Cincinnati, Ohio, USA.
  • Skoch J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Gripp KW; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Prada CE; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Am J Med Genet A ; 188(4): 1280-1286, 2022 04.
Article en En | MEDLINE | ID: mdl-34964243
ABSTRACT
Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Craneosinostosis / Síndrome de Costello / Síndrome de Noonan Tipo de estudio: Diagnostic_studies Límite: Humans 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: Displasia Ectodérmica / Craneosinostosis / Síndrome de Costello / Síndrome de Noonan Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article