A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we repor...

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Detalles Bibliográficos
Autores principales: Bruni, Valentina, Spoleti, Cristina Barbara, La Barbera, Andrea, Dattilo, Vincenzo, Colao, Emma, Votino, Carmela, Bellacchio, Emanuele, Perrotti, Nicola, Giglio, Sabrina, Iuliano, Rodolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467821/
https://www.ncbi.nlm.nih.gov/pubmed/34573377
http://dx.doi.org/10.3390/genes12091395

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