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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...

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Bibliografski detalji
Glavni autori: Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Format: Artigo
Jezik:Inglês
Izdano: Wiley Periodicals, Inc. 2014
Teme:
Online pristup: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
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