SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet. 2021 Oct 21:jmedgenet-2021-108114. doi: 10.1136/jmedgenet-2021-108114. Online ahead of print.
J Med Genet. 2021.
PMID: 34675124
Free article.