Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been...

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Detalles Bibliográficos
Autores principales: Perez-Carbajo, Esther, Zapardiel, Ignacio, Sanfrutos-Llorente, Luis, Cruz-Melguizo, Sara, Martinez-Payo, Cristina, Iglesias-Goy, Enrique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348580/
https://www.ncbi.nlm.nih.gov/pubmed/25789188
http://dx.doi.org/10.1155/2015/980749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4348580/
https://www.ncbi.nlm.nih.gov/pubmed/25789188
http://dx.doi.org/10.1155/2015/980749

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