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NK cells deficiency in joubert syndrome and review


Marketed By :  LAP LAMBERT Academic Publishing   Sold By :  Kamal Books International  
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  • Product Description

Joubert syndrome (JS) is a rare, complex autosomal or X-linked recessive inherited disorder mostly characterized by partial or complete agenesis of the cerebellar vermis. There is a wide clinical and genetic heterogeneity in the syndrome. The main clinical features of JS are hypotonia, ataxia, developmental delay, oculomotor apraxia, breathing abnormalities and peculiar neuroimaging findings. A lot of additional features have been reported. Here, we first reported a case of the syndrome with natural killer(NK) cells deficiency. To date, nearly all JS genes identified encode for proteins expressed in the primary cilium and/or basal body and centrosome, making JS part of the expanding group of ciliopathies. We review clinical features and molecular genetics of Joubert syndrome.

Product Specifications
SKU :COC60336
AuthorWei-Liang Liu,Fang Li and Zhi-Xu He
Number of Pages64
Publishing Year05.12.2014
Edition1 st
Book TypeMedicine
Country of ManufactureIndia
Product BrandLAP LAMBERT Academic Publishing
Product Packaging InfoBox
In The Box1 Piece
Product First Available On ClickOnCare.com2015-08-05 00:00:00