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Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux

Silico AnalysesMendelian DisorderGenetic DisorderMedicineGeneticsPathologyMolecular BiologyNpr2 GeneMolecular GeneticsDisease Gene IdentificationGenomicsMonogenic DisordersEpigeneticsClinical GeneticsType Maroteaux