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Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report
BACKGROUND: Achondroplasia (ACH), the most common form of short‐limbed skeletal dysplasia, is caused by gain‐of‐function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G380R mutation in the FGFR3 gene. We present here a child...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057100/ https://ncbi.nlm.nih.gov/pubmed/31975530 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1148 |
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