Novel missense COL2A1 variant in a fetus with achondrogenesis type II

Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel...

Descripción completa

Detalles Bibliográficos
Autores principales: Kobayashi, Yukari, Ito, Yuki, Taniguchi, Kosuke, Harada, Kana, Yamamura, Michihiro, Sato, Taisuke, Takahashi, Ken, Kawame, Hiroshi, Hata, Kenichiro, Samura, Osamu, Okamoto, Aikou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663423/
https://www.ncbi.nlm.nih.gov/pubmed/36376277
http://dx.doi.org/10.1038/s41439-022-00218-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9663423/
https://www.ncbi.nlm.nih.gov/pubmed/36376277
http://dx.doi.org/10.1038/s41439-022-00218-5

Ejemplares similares