By KB In News, ResearchPosted 23. March 2023Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly READ MORE
By KB In Gene of the MonthPosted 1. March 2023Gene of the Month – February: HMGB1Specific heterozygous variants in HMGB1 cause an extremely rare congenital disorder, called BPTAS, which is characterized mainly by limb malformations including smaller-than-normal or extra [...] READ MORE