Associated Papers
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.
Jayadev R et al.
Science Advances, 2022
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Luo S et al.
Frontiers in Molecular Neuroscience, 2022
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M et al.
Ebiomedicine, 2020
Early posterior vitreous detachment is associated with LAMA5 dominant mutation.
Napolitano F et al.
Ophthalmic Genetics, 2019
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
Sampaolo S et al.
Journal of Medical Genetics, 2017
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