Condition: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
rs540704248
in
ITGA3
gene and
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
PMID 26633545
2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 27717396
2016 Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
PMID 22512483
2012 Integrin α3 mutations with kidney, lung, and skin disease.