Achondroplasia
Author:
Affiliation:
1. Department of Pediatrics, Okayama University Hospital
Publisher
Okayama Medical Association
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/joma/134/3/134_176/_pdf
Reference26 articles.
1. Ornitz DM, Legeai-Mallet L : Achondroplasia : Development, pathogenesis, and therapy. Dev Dyn (2017) 246, 291-309.
2. Pauli RM : Achondroplasia : a comprehensive clinical review. Orphanet J Rare Dis (2019) 14, 1.
3. Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, et al. : Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 371, 252-254.
4. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, et al. : Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell (1994) 78, 335-342.
5. Hasegawa K, Tanaka H : Children with short-limbed short stature in pediatric endocrinological services in Japan. Pediatr Int (2014) 56, 809-812.
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