Article
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
Journal of medical genetics - 1 Oct 2017
Sampaolo Simone, Napolitano Filomena, Tirozzi Alfonsina, Reccia Mafalda Giovanna, Lombardi Luca, Farina Olimpia, Barra Adriano, Cirillo Ferdinando, Melone Mariarosa Anna Beatrice, Gianfrancesco Fernando, Iorio Giuseppe Di, Esposito Teresa
Abstract excerpt
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome....
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