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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...

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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

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