Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.
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| Title: | Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. |
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| Authors: | Błaszczyk E; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. ewa.blaszczyk@sum.edu.pl., Więcek M; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Jazela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Kudela G; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Koszutski T; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Kowalczyk K; Chair and Department of Gynecology, Obstetrics and Oncological Gynecology, Medical University of Silesia, Katowice, Poland., Sikora J; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Wiernik A; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Żarczyńska M; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Kempińska W; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Bielska-Brodziak A; Faculty of Law and Administration, University of Silesia, Katowice, Poland., Gawlik-Starzyk A; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. agawlik@mp.pl. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jun 27; Vol. 21 (1). Date of Electronic Publication: 2026 Jun 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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