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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad, Maya; Csukasi, Fabiana; Kunova-Bosakova, Michaela; Martin, Jorge H.; Zhang, Wenjuan; Taylor, Paige; Lachman, Ralph; Zieba, Jennifer; Bamshad, Michael; Nickerson, Deborah; Chong, Jessica X; Cohn, Daniel H; Krejci, Pavel; Krakow, Deborah; Duran, Ivan[et al.] (Elsevier, 2020-11-23)Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions ...