Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum.
- DOI
- 10.3390/genes17101249
- Published
- 2026 Oct 10
- Container
- Genes
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3390/genes17101249,
title = {Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum.},
author = {Du M and Wang P and Liu Z and Cao B},
year = {2026},
journal = {Genes},
doi = {10.3390/genes17101249},
url = {https://doi.org/10.3390/genes17101249}
}RIS
TY - JOUR TI - Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum. AU - Du M AU - Wang P AU - Liu Z AU - Cao B PY - 2026 JO - Genes DO - 10.3390/genes17101249 UR - https://doi.org/10.3390/genes17101249 ER -
APA
M, D., P, W., Z, L., & B, C. (2026). Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum.. Genes. https://doi.org/10.3390/genes17101249
Source records
- pubmed · retrieved 2026-11-10T08:18:44.454Z