A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia

A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia https://t.co/nXqinmFrdb https://t.co/gmG0ny13vn

Check out Jonathans first publication as part of the team :-) Happy to have contributed - time to put KPNA3 on the radar for HSP! #RareDisease @jonathanDW5

Check our newest publication in which we reply to Schob et al. by reporting an additional family with an autosomal dominant pure Hereditary Spastic Paraplegia caused by a recurrent missense variant in KPNA3. First fruits of our teamwork @LiedeweiVdV. ht…