Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report

BACKGROUND: Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000–30,000 newborns, which is an autosomal dominant inheritance disease. Despite similar imaging features, the homozygous achondroplasia is absolutely lethal...

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Detalles Bibliográficos
Autores principales: Chen, Shujun, Dong, Hongmei, Luo, Yong, Zhang, Yingpin, Li, Pan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10116793/
https://www.ncbi.nlm.nih.gov/pubmed/37076826
http://dx.doi.org/10.1186/s12920-023-01517-8

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