Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report

BACKGROUND: Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder typically characterised by recurrent seizures, intel...

Descripción completa

Detalles Bibliográficos
Autores principales: Fu, Li’na, Liu, Yan, Chen, Yu, Yuan, Yi, Wei, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394075/
https://www.ncbi.nlm.nih.gov/pubmed/30813920
http://dx.doi.org/10.1186/s12887-019-1440-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394075/
https://www.ncbi.nlm.nih.gov/pubmed/30813920
http://dx.doi.org/10.1186/s12887-019-1440-8

Ejemplares similares