Associated Papers
Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.
Su J et al.
Molecular Genetics & Genomic Medicine, 2025
Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review.
Pasquetti D et al.
Genes, 2025
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
Qin XJ et al.
Human Genomics, 2022
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