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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Diagnostics (Basel)
Hoofdauteurs: Panaitescu, Anca Maria, Duta, Simona, Gica, Nicolae, Botezatu, Radu, Nedelea, Florina, Peltecu, Gheorghe, Veduta, Alina
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2021
Onderwerpen:
Review
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items