Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
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1. 46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature review;Hormones;2024-07-25
2. Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study;The Journal of Clinical Endocrinology & Metabolism;2024-04-16
3. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development;eBioMedicine;2024-01
4. Disorders of the Adrenal Gland;Avery's Diseases of the Newborn;2024
5. Steroidogenic Factor-1 form and function: From phospholipids to physiology;Advances in Biological Regulation;2023-09
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