NK cells deficiency in joubert syndrome and review
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 ce…
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Produktdetails
Weitere Autoren: Li, Fang / He, Zhi-Xu
- ISBN: 978-3-659-63897-8
- EAN: 9783659638978
- Produktnummer: 37620509
- Verlag: LAP Lambert Academic Publishing
- Sprache: Englisch
- Erscheinungsjahr: 2014
- Seitenangabe: 64 S.
- Masse: H22.0 cm x B15.0 cm x D0.4 cm 113 g
- Abbildungen: Paperback
- Gewicht: 113
Über den Autor
Wei-Liang Liu, MD: studied medical genetics at department of pediatrics, affiliated hospital of guiyang medical college. Pediatrist at affiliated hospital of guiyang medical college.
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