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Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center
CONCLUSIONS: 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.PMID:37699373 | DOI:10.1159/000534085 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of s...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 12, 2023 Category: Genetics & Stem Cells Authors: Sultana Mh Faradz Nurin Listyasari Agustini Utari Mahayu Dewi Ariani Achmad Zulfa Juniarto Ardy Santosa Annastasia Ediati Tuula K Rinne Dineke Westra Hedi Claahsen-van der Grinten Frank H de Jong Stenvert Ls Drop Katie Ayers Andrew Sinclair Source Type: research

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center
CONCLUSIONS: 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.PMID:37699373 | DOI:10.1159/000534085 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of s...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 12, 2023 Category: Genetics & Stem Cells Authors: Sultana Mh Faradz Nurin Listyasari Agustini Utari Mahayu Dewi Ariani Achmad Zulfa Juniarto Ardy Santosa Annastasia Ediati Tuula K Rinne Dineke Westra Hedi Claahsen-van der Grinten Frank H de Jong Stenvert Ls Drop Katie Ayers Andrew Sinclair Source Type: research

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center
CONCLUSIONS: 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.PMID:37699373 | DOI:10.1159/000534085 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of s...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 12, 2023 Category: Genetics & Stem Cells Authors: Sultana Mh Faradz Nurin Listyasari Agustini Utari Mahayu Dewi Ariani Achmad Zulfa Juniarto Ardy Santosa Annastasia Ediati Tuula K Rinne Dineke Westra Hedi Claahsen-van der Grinten Frank H de Jong Stenvert Ls Drop Katie Ayers Andrew Sinclair Source Type: research

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center
CONCLUSIONS: 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.PMID:37699373 | DOI:10.1159/000534085 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of s...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 12, 2023 Category: Genetics & Stem Cells Authors: Sultana Mh Faradz Nurin Listyasari Agustini Utari Mahayu Dewi Ariani Achmad Zulfa Juniarto Ardy Santosa Annastasia Ediati Tuula K Rinne Dineke Westra Hedi Claahsen-van der Grinten Frank H de Jong Stenvert Ls Drop Katie Ayers Andrew Sinclair Source Type: research

Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center
CONCLUSIONS: 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.PMID:37699373 | DOI:10.1159/000534085 (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of s...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 12, 2023 Category: Genetics & Stem Cells Authors: Sultana Mh Faradz Nurin Listyasari Agustini Utari Mahayu Dewi Ariani Achmad Zulfa Juniarto Ardy Santosa Annastasia Ediati Tuula K Rinne Dineke Westra Hedi Claahsen-van der Grinten Frank H de Jong Stenvert Ls Drop Katie Ayers Andrew Sinclair Source Type: research