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Currently filtering by tag: LMXB1

Twitter Poll (August 5, 2020)

Nail-Patella syndrome, Twitter Poll, Arkana Laboratories
Answer: A, Autosomal recessive inheritance Nail-Patella syndrome is a rare autosomal dominant disease with an incidence of approximately 1/50,000. The majority of cases are due to a mutation in LMX1B located at chromosome 9q34.1. The gene is important in development as it encodes a transcription factor important in dorsoventral pattern limb development, proper development of the anterior eye, neuron development within the CNS, and podocyte differentiation and maintenance. The kidney pathology is rather non-specific and can show minimal glomerular changes to variable degrees of FSGS with thickened capillary loops. By EM, the classic finding is that of "Moth-eaten" glomerular basement...