Schlump J

No ORCID on file · 1 paper in corpus · active 2024
2024
·doi:10.1101/2024.01.14.24301100

Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-in…