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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Main Authors: | Esther Perez-Carbajo, Ignacio Zapardiel, Luis Sanfrutos-Llorente, Sara Cruz-Melguizo, Cristina Martinez-Payo, Enrique Iglesias-Goy |
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Format: | Article |
Language: | English |
Published: |
Wiley
2015-01-01
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Series: | Case Reports in Obstetrics and Gynecology |
Online Access: | http://dx.doi.org/10.1155/2015/980749 |
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