Anna Fliedner
YOU?
Author Swipe
View article: Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp>
Further characterization of <span>Borjeson‐Forssman‐Lehmann</span> syndrome in females due to de novo variants in <span><i>PHF6</i></span> Open
While inherited hemizygous variants in PHF6 cause X‐linked recessive Borjeson‐Forssman‐Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate…