Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
Shen Y. et al, (2021), Front Genet, 12
Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities.
Ren Y. et al, (2021), Front Genet, 12
Meng X. et al, (2018), Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 35, 783 - 786
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
Shen Y. et al, (2018), Orphanet J Rare Dis, 13
An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis
Xiao Y. et al, (2015), Clinica Chimica Acta, 442, 84 - 86