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Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis

BACKGROUND: Achondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding prote...

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Detalles Bibliográficos
Autores principales:	Vanegas, Sara, Sua, Luz Fernanda, López-Tenorio, Jaime, Ramírez-Montaño, Diana, Pachajoa, Harry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973320/ https://www.ncbi.nlm.nih.gov/pubmed/29872333 http://dx.doi.org/10.2147/TACG.S157235

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