Hypochondroplasia
Nov. 15, 2024
Overall appearance of patients. (a–e) Hypochondroplasia characterized... | Download Scientific Diagram PDF] Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? | Semantic Scholar Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia | European Journal of Human Genetics Hypochondroplasia