Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with a HPMRS phenotype caused by mutations in PIGL, co...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Altassan, Ruqaiah, Fox, Stephanie, Poulin, Chantal, Buhas, Daniela
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6047459/
https://ncbi.nlm.nih.gov/pubmed/30023290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.01.007
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