A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

BACKGROUND: X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier family...

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Publicado en:BMC Med Genet
Autores principales: Wang, Qin, Yang, Jingxin, Liu, Yang, Li, Xingping, Luo, Fuwei, Xie, Jiansheng
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6219255/
https://ncbi.nlm.nih.gov/pubmed/30400883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0707-5
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