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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Bibliografiske detaljer
Udgivet i:Case Rep Obstet Gynecol
Main Authors: Perez-Carbajo, Esther, Zapardiel, Ignacio, Sanfrutos-Llorente, Luis, Cruz-Melguizo, Sara, Martinez-Payo, Cristina, Iglesias-Goy, Enrique
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2015
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348580/
https://ncbi.nlm.nih.gov/pubmed/25789188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/980749
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