De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1186/1752-1947-6-256/fulltext.html
Reference15 articles.
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2. Trotter TL, Hall JG, The American Academy of Pediatrics Committee on Genetics: Health supervision for children with achondroplasia. Pediatrics. 2005, 116: 771-783. 10.1542/peds.2005-1440.
3. Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M: Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia. Nature. 1994, 371: 252-254. 10.1038/371252a0.
4. Shiang R, Thomson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994, 78: 335-342. 10.1016/0092-8674(94)90302-6.
5. Ornitz DM, Marie PJ: FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev. 2002, 16: 1446-1465. 10.1101/gad.990702.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family;Diagnostic Pathology;2017-07-05
2. Achondroplasia;Diagnostic Imaging: Obstetrics;2016
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