Supplementary MaterialsDocument S1. people with ATD. We detected biallelic mutations in the IFT-B-encoding gene in 12 family members thereby. All individuals shown abnormalities from the thorax and/or lengthy bones, aswell as renal, hepatic, or retinal participation, in keeping with the analysis of MZSDS or ATD. Additionally, cerebellar hypoplasia or aplasia feature of Joubert symptoms was… Continue reading Supplementary MaterialsDocument S1. people with ATD. We detected biallelic mutations in