A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsut...

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Detalles Bibliográficos
Publicado en:Diagnostics (Basel)
Autores principales: Panaitescu, Anca Maria, Duta, Simona, Gica, Nicolae, Botezatu, Radu, Nedelea, Florina, Peltecu, Gheorghe, Veduta, Alina
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7835910/
https://ncbi.nlm.nih.gov/pubmed/33478103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11010142
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