Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
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DOI: 10.1055/s-0041-1733948
Abstract: Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and… read more here.
Keywords: ptprq mutations; hearing loss; sensorineural hearing; deficiency iii ... See more keywords