Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology
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DOI: 10.1111/cge.14229
Abstract: Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi‐allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis,… read more here.
Keywords: pathogenic variants; disease unknown; disease; allelic pathogenic ... See more keywords