Braquidactilia tipo C debida a mutación de parada en el gen GDF5
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference6 articles.
1. A novel mutation in CDMP1 causes brachydactyly type C with angel-shaped phalanx. A genotype-phenotype correlation in the mutational spectrum;Gutiérrez-Amavizca;Eur J Med Genet,2012
2. Novel indel mutation in the GDF5 gene is associated with brachydactyly type C in a four-generation Turkish family;Uyguner;Mol Syndromol,2014
3. Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: Brachydactyly type C and proximal symphalangism;Yang;J Hum Genet,2008
4. Missense mutations in GDF-5 signaling: Molecular mechanisms behind skeletal malformation;Hellmann,2012
5. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2;Seemann;J Clin Invest.,2005
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. Polybrachysyndactyly in all 4 extremities: Case report;International Journal of Surgery Case Reports;2024-09
2. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review;European Journal of Medical Genetics;2021-07
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