Associated Papers
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
Qin XJ et al.
Human Genomics, 2022
36123719 (PubMed )
Supplement: 40246_2022_409_MOESM4_ESM.xlsx › MMP21_variants
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
Yuan ZZ et al.
Frontiers in Cardiovascular Medicine, 2020
Clinical detection of deletion structural variants in whole-genome sequences.
Noll AC et al.
Npj Genomic Medicine, 2016
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A et al.
Nature Genetics, 2015
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015
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