De novo 12;17 translocation upstream ofSOX9resulting in 46,XX testicular disorder of sex development
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference23 articles.
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2. The etiology of XX sex reversal;de la Chapelle;Reprod Nutr Dev,1990
3. The role of the sex-determining region Y gene in the etiology of 46,XX maleness;Fechner;J Clin Endocrinol Metab,1993
4. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene;Foster;Nature,1994
5. Autosomal XX sex reversal caused by duplication of SOX9;Huang;Am J Med Genet,1999
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1. Testicular differentiation in 46,XX DSD: an overview of genetic causes;Frontiers in Endocrinology;2024-04-24
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5. Identification of the first promoter‐specific gain‐of‐function SOX9 missense variant (p. E50K ) in a patient with 46, XX ovotesticular disorder of sex development;American Journal of Medical Genetics Part A;2021-01-05
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