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Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
Autor:
Datar Chaitanya A, Kumarasamy Thangaraj, Rajesh Khadgawat, Jaishree Dhyani, Baidyanath Chakravarthy, Shveta Jaishankar, Mamata Deenadayal, Iram Shabir, Sree Namduri, Nalini J. Gupta, Khadilkar Vaman, Anuranjan Anand, Yogendra Sharma, Digumarthi V. S. Sudhakar, Raghvendra Singh, Umesh Kumar, Usha Kabilan, Phanindranath Regur, Rima Dada
Publikováno v:
Sexual Development. 13:178-186
Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a29aea5bc290158c4c27f1ca6a2d31b9
https://doi.org/10.1159/000505527
https://doi.org/10.1159/000505527
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development
Autor:
Digumarthi V S, Sudhakar, Shveta, Jaishankar, Phanindranath, Regur, Umesh, Kumar, Raghvendra, Singh, Usha, Kabilan, Sree, Namduri, Jaishree, Dhyani, Nalini J, Gupta, Baidyanath, Chakravarthy, Khadilkar, Vaman, Iram, Shabir, Rajesh, Khadgawat, Mamata, Deenadayal, Datar, Chaitanya A, Rima, Dada, Yogendra, Sharma, Anuranjan, Anand, Kumarasamy, Thangaraj
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 13(4)
Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::35fbc4ad3de776447589391db20bf5ab
https://pubmed.ncbi.nlm.nih.gov/32008008
https://pubmed.ncbi.nlm.nih.gov/32008008