Article
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.
Journal of medical genetics - 1 May 2004
Longui C A, Lemos-Marini S H V, Figueiredo B, Mendonca B B, Castro M, Liberatore R, Watanabe C, Lancellotti C L P, Rocha M N, Melo M B, Monte O, Calliari L E P, Guerra-Junior G, Baptista M T M, Sbragia-Neto L, Latronico A C, Moreira A, Tardelli A M D, Nigri A, Taymans S E, Stratakis C A
Abstract excerpt
The R337H TP53 mutation is a low-penetrance molecular defect that predisposes to adrenocortical tumour (ACT) formation in Brazilian and possibly other populations. Additional genetic defects may be responsible for the variable expression of ACTs in these cases. The inhibin alpha-subunit gene (INHA) on 2q33-qter has been implicated in mouse adrenocortical tumourigenesis. We studied 46 pediatric patients with ACTs...
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