Review of patients with achondroplasia: a single-center’s experience with follow-up and associated morbidities
Eur J Pediatr. 2024 Jun 15. doi: 10.1007/s00431-024-05643-y. Online ahead of print. ABSTRACT Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic …