- Tytuł:
- Review of published 467 achondroplasia patients: clinical and mutational spectrum.
- Autorzy:
- Źródło:
- Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 27; Vol. 19 (1), pp. 29. Date of Electronic Publication: 2024 Jan 27.
- Typ publikacji:
- Journal Article; Review
- MeSH Terms:
-
Genu Valgum *
Achondroplasia*/genetics
Achondroplasia*/pathology
Osteochondrodysplasias*
Megalencephaly*
Child ; Infant, Newborn ; Adolescent ; Humans ; Male ; Female ; Adult ; Middle Aged ; Mutation/genetics
Czasopismo naukowe