Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

BACKGROUND: RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different tissue types including the brain. However, mutatio...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7318102/
https://ncbi.nlm.nih.gov/pubmed/32431071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51059
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