Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
-
Published:2024-01
Issue:
Volume:99
Page:104941
-
ISSN:2352-3964
-
Container-title:eBioMedicine
-
language:en
-
Short-container-title:eBioMedicine
Author:
Kouri ChrysanthiORCID, Sommer Grit, Martinez de Lapiscina Idoia, Elzenaty Rawda Naamneh, Tack Lloyd J.W., Cools Martine, Ahmed S. Faisal, Flück Christa E.ORCID, Abali Saygin, Abali Zehra Yavas, Akin Leyla, Almaraz Maricruz, Audí Laura, Aydin Murat, Balsamo Antonio, Baronio Federico, Bryce Jillian, Busiah Kanetee, Caimari Maria, Camats-Tarruella Núria, Campos-Martorell Ariadna, Castaño Luis, Casteràs Anna, Çetinkaya Semra, Chan Yee-Ming, Claahsen-van der Grinten Hedi L., Costa Ines, Darendeliler Fatma Feyza, Davies Justin H., Esteva Isabel, Fabbri-Scallet Helena, Finlayson Courtney A., Garcia Emilio, Garcia Cuartero Beatriz, German Alina, Globa Evgenia, Guerra-Junior Gil, Guerrero Julio, Guran Tulay, Hannema Sabine E., Hiort Olaf, Hirsch Josephine, Hughes Leuan, Janner Marco, Kolesinska Zofia, Lachlan Katherine, Lauber-Biason Anna, Malikova Jana Krenek, l'Allemand Dagmar, Lenhnerr-Taube Nina, Lucas-Herald Angela, Mammadova Jamala, MсElreavey Kenneth, Mericq Veronica, Mönig Isabel, Moreno Francisca, Mührer Julia, Niedziela Marek, Nordenstrom Anna, Orman Burçe, Poyrazoglu Sukran, Rial Jose M., Rutter Meilan M., Rodríguez Amaia, Schafer-Kalkhoff Tara, Sauter Kay-Sara, Seneviratne Sumudu Nimali, Sredkova-Ruskova Maria, Tadokoro-Cuccaro Rieko, Thankamony Ajay, Tomé Mónica, Vela Amaia, Wasniewska Malgorzata, Zangen David, Zelinska Nataliya
Reference98 articles.
1. Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease;Schimmer;Mol Endocrinol,2010 2. Characterization of the mouse FTZ-F1 gene, which encodes a key regulator of steroid hydroxylase gene expression;Ikeda;Mol Endocrinol,1993 3. A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s;Morohashi;J Biol Chem,1992 4. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation;Luo;Cell,1994 5. Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice;Shinoda;Dev Dynam,1995
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|