Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia

Ellis-van Creveld syndrome (EVC) is a rare genetic disorder characterized by chondral and ectodermal dysplasia. Clinical features may include polydactyly, growth retardation, short ribs, and heart defects. The exact prevalence is still unclear; however, the Amish community in the United States is th...

Descripción completa

Detalles Bibliográficos
Autores principales: Alessa, Nouf, Mahnashi, Mohammed A, Fatehi, Lana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491797/
https://www.ncbi.nlm.nih.gov/pubmed/34659963
http://dx.doi.org/10.7759/cureus.17750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491797/
https://www.ncbi.nlm.nih.gov/pubmed/34659963
http://dx.doi.org/10.7759/cureus.17750

Ejemplares similares