A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generall...

Descripción completa

Detalles Bibliográficos
Autores principales: Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804659/
https://www.ncbi.nlm.nih.gov/pubmed/31645978
http://dx.doi.org/10.1038/s41439-019-0071-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804659/
https://www.ncbi.nlm.nih.gov/pubmed/31645978
http://dx.doi.org/10.1038/s41439-019-0071-9

Ejemplares similares