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Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Approximately 1 of every 250 newborns has some abnormality of genital and/or gonadal development. However, a specific molecular cause is identified in only 20% of these cases of disorder of sex development (DSD). We identified a family of French origin presenting with 46,XY DSD and congenital heart...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029689/ https://ncbi.nlm.nih.gov/pubmed/21220346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1010257108 |
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