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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. WDR73 pathogenic variants were described as the first genetic cause of GAMOS and, very recently, four novel causative genes, OSGEP...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMC Nephrol |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2019
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6458604/ https://ncbi.nlm.nih.gov/pubmed/30975089 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1317-y |
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