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- [2] Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence FRONTIERS IN NEUROLOGY, 2023, 14
- [3] Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights FRONTIERS IN IMMUNOLOGY, 2024, 15
- [4] A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report FRONTIERS IN PEDIATRICS, 2024, 12
- [6] A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C Journal of Human Genetics, 2024, 69 : 79 - 84
- [8] Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype neurogenetics, 2022, 23 : 11 - 17
- [9] Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (08):
- [10] A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2020, 13 (08): : 2137 - 2142