A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal-recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED-associated genes are members of the intraflagelline transport (IFT) system, which serves...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Zhang, Qiang, Chen, Fei, Yi, Shang, Li, Mengting, Yi, Sheng, Xu, Xingmin, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885081/
https://www.ncbi.nlm.nih.gov/pubmed/33717254
http://dx.doi.org/10.3892/etm.2021.9742

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885081/
https://www.ncbi.nlm.nih.gov/pubmed/33717254
http://dx.doi.org/10.3892/etm.2021.9742

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