Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagel...

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Detalles Bibliográficos
Autores principales: Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc. 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960051/
https://www.ncbi.nlm.nih.gov/pubmed/24689072
http://dx.doi.org/10.1002/mgg3.44

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960051/
https://www.ncbi.nlm.nih.gov/pubmed/24689072
http://dx.doi.org/10.1002/mgg3.44

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