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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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Hlavní autoři: Lourenço, Diana, Brauner, Raja, Rybczyńska, Magda, Nihoul-Fékété, Claire, McElreavey, Ken, Bashamboo, Anu
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2011
Témata:
On-line přístup: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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