Publications
Export 2 results:
Author Title [ Year
Filters: First Letter Of Last Name is B and Author is Bosakova, Michaela [Clear All Filters]
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. EBioMedicine 62, 103075 (2020).
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med 12, e11739 (2020).