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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...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wiley Periodicals, Inc.
2014
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3960051/ https://ncbi.nlm.nih.gov/pubmed/24689072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.44 |
| Etiketak: |
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