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Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenes...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sciendo
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714336/ https://www.ncbi.nlm.nih.gov/pubmed/31523626 http://dx.doi.org/10.2478/bjmg-2019-0001 |