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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wiley Periodicals, Inc.
2014
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| Materias: | |
| 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 |