Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation(2023)
摘要
Our work has highlighted the occurrence of different DSDs in Indonesia. By applying sequencing technologies as part of our clinical care, we have delivered a number of genetic diagnoses and identified novel pathogenic variants in some genes, which may be clinically specific to Indonesia. Genetics can inform many aspects of DSD clinical management, and whilst many of our patients remain undiagnosed, we hope that future testing may provide answers for even more.
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关键词
Chromosomes, Disorders of Sex Development, Genes, Indonesia, Multi Disciplinary Team
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