Novel Phenotype of Achondroplasia due to Biallelic FGFR3 Pathogenic Variants

Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G>A and c.1138G>C (p.Gly380Arg). In the homoz...

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Udgivet i:Am J Med Genet A
Main Authors: Chang, Irene J., Sun, Angela, Bouchard, Maryse L., Kamps, Shawn E., Hale, Susan, Done, Stephen, Goldberg, Michael J., Glass, Ian A.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6121735/
https://ncbi.nlm.nih.gov/pubmed/30160829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38839
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