Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MB...

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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2016
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065650/
https://ncbi.nlm.nih.gov/pubmed/27616480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.019
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