Marc Sturm results 2
· Newest (Page 1/1, per page 25)
Author: Marc Sturm ×Clear All Filters
Search Results
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndromeNARA Subscribed
We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unknown. Interestingly, mutations in the FBRSL1 paralogue AUTS2 lead to an intellectual disability syndrome (AUTS2 syndrome). We deter...
Previous1Next