A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects
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DOI: 10.1172/jci.insight.158378
Abstract: The LAMA5 gene encodes laminin α5, an indispensable component of glomerular basement membrane and other types of basement membrane. A homozygous pathological variant in LAMA5 is known to cause a systemic developmental syndrome including glomerulopathy.… read more here.
Keywords: pulmonary defects; laminin; slowly progressive; heterozygous lama5 ... See more keywords