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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Sci Rep. 2024 Apr 1;14(1):7638. doi: 10.1038/s41598-024-58452-6.
Sci Rep. 2024.
PMID: 38561452
Free PMC article.
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH, Lin AP, Zhang L, Ruan DD, Gao MZ, Chen Q, Yu HP, Liao LS, Lin XF, Fang ZT, Lin F, Lu SY, Luo JW, Zheng XL, Chen MS.
Zhang JH, et al.
Dig Dis Sci. 2024 Apr 2. doi: 10.1007/s10620-024-08395-9. Online ahead of print.
Dig Dis Sci. 2024.
PMID: 38564148
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