Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations

Am J Med Genet A. 2024 Feb;194(2):394-396. doi: 10.1002/ajmg.a.63423. Epub 2023 Oct 3.
No abstract available

MeSH terms

  • Body Height
  • Bone and Bones / abnormalities*
  • Dwarfism* / diagnosis
  • Dwarfism* / genetics
  • Female
  • Humans
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / genetics
  • Lordosis*
  • Mutation
  • Puberty / genetics

Supplementary concepts

  • Hypochondroplasia