Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation

SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with...

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Vydáno v:BMJ Case Rep
Hlavní autoři: Padmanabha, Hansashree, Saini, Arushi Gahlot, Sahu, Jitendra Kumar, Singhi, Pratibha
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2017
Témata:
Unusual Association of Diseases/Symptoms
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5780601/
https://ncbi.nlm.nih.gov/pubmed/29275387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222050
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