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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047459/ https://www.ncbi.nlm.nih.gov/pubmed/30023290 http://dx.doi.org/10.1016/j.ymgmr.2018.01.007 |