Review
Sep 2026
Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.
Clinical findings in patients with HCH were milder in individuals with serine substitution than in those with lysine substitution, consistent with this, and underscores genetic and clinical heterogeneity of HCH.
Abdülkerim Kolkıran, M. A. Kulalı, Tuğba Daşar et al.
· Hormone Research in Paediatr... · 0 citations