Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Proceedings of the National Academy of Sciences of the United States of America - 25 Jan 2011
Lourenço Diana, Brauner Raja, Rybczynska Magda, Nihoul-Fékété Claire, McElreavey Ken, Bashamboo Anu
Abstract excerpt
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 disease. Sequencing of the ORF of GATA4 identified a heterozygous missense mutation (p.Gly221Arg) in the conserved...
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