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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...

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Detalles Bibliográficos
Autores principales:	Dogan, P, Varal, IG, Gorukmez, O, Akkurt, MO, Akdag, A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2019
Materias:	Case Report
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

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