Publication | Open Access

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation

Developmental AnomalyMendelian DisorderGenetic DisorderMedicineGeneticsNovel Heterozygous MutationPathologyMolecular GeneticsGenetic VariationDisease Gene IdentificationGenomicsAggrecan GeneIdiopathic Short StatureClinical Genetics