A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1
{{output}}
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature... ...
