Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence?
Tüysüz B, Ercan-Sencicek AG, Canpolat N, Koparır A, Yılmaz S, Kılıçaslan I, Gülez B, Bilguvar K, Günel M. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co‐occurrence? American Journal Of Medical Genetics Part A 2016, 170: 1187-1195. PMID: 26749367, DOI: 10.1002/ajmg.a.37543.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBase SequenceChildExomeFemaleGlomerulosclerosis, Focal SegmentalHomozygoteHumansKidneyMaleMucolipidosesMutation, MissensePedigreeTransferases (Other Substituted Phosphate Groups)ConceptsRenal involvementFlexion contractureNormal renal functionCause of proteinuriaNephrotic range proteinuriaFocal segmental glomerulosclerosisRare lysosomal storage disorderHereditary kidney diseaseGlomerular visceral epithelial cellsNovel homozygous missense mutationVisceral epithelial cellsWhole-exome sequencingLysosomal storage disorderRenal functionBiopsy findingsRenal biopsyKidney diseaseSegmental glomerulosclerosisFamily historyChildhood onsetGNPTAB geneHealthy siblingsHomozygous missense mutationLarge jointsMild short stature