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

Internet

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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