Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families

Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caused by mutations in the G protein–coupled receptor...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Sawal, Humaira Aziz, Harripaul, Ricardo, Mikhailov, Anna, Vleuten, Kayla, Naeem, Farooq, Nasr, Tanveer, Hassan, Muhammad Jawad, Vincent, John B., Ayub, Muhammad, Rafiq, Muhammad Arshad
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2018
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5916802/
https://ncbi.nlm.nih.gov/pubmed/29707406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1612591
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