Funder
Beijing Municipal Science and Technology Commission, Adminitrative Commission of Zhongguancun Science Park
Reference4 articles.
1. Xiaohui, D., Wei, W., Mingrui, D., Lu, W., Ziqiang, S., Zhaoxia, W., et al., 2019. 'Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features', Chin. J. Med. Genet., June 2019,V01. 36,No. 6.
2. Perrault syndrome: further evidence for genetic heterogeneity;Jenkinson;J. Neurol.,2012
3. Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation;Lv;Stem Cell Res.,2022
4. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome;Pierce;Am. J. Hum. Genet.,2010