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- [21] Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2023, 2023 (02):
- [26] A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report Egyptian Journal of Medical Human Genetics, 24
- [29] Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p. Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2017, 30 (03): : 355 - 360