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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
LanguageEnglish
BindingPaperback
Number of Pages64
Publishing Year05.12.2014
ISBN9783659638978
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
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