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 en:Mol Genet Genomic Med
Autores principales: Nagata, Tadashi, Matsushita, Masaki, Mishima, Kenichi, Kamiya, Yasunari, Kato, Kohji, Toyama, Miho, Ogi, Tomoo, Ishiguro, Naoki, Kitoh, Hiroshi
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Original Articles
Acceso en línea: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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