P724: A unique presentation of triple X syndrome with four copies of SHOX and additional low-level aneuploidy mosaicism

Autor: Spaulding, Joanna, Ammouri, Farah, Nielsen, Shelly, VanDyke, Zephyr, Koerselman, Haley, Zaleski, Dianna, Althof, Pamela, Lulla, Dinesh

Publikováno v: In Genetics in Medicine Open 2024 2 Supplement 1

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Autor: Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Olney, Ann Haskins, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Koehler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke, Smith, M.J.

Publikováno v: The Journal of Clinical Endocrinology & Metabolism; Vol 97
Journal of Clinical Endocrinology and Metabolism, 97(2), E257-E267. ENDOCRINE SOC
Journal of Clinical Endocrinology and Metabolism, 97, E257-67
Journal of Clinical Endocrinology and Metabolism, 97, 2, pp. E257-67

Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1befea8debd4fcc1e3cfd4902412f00e
https://hdl.handle.net/11370/45890e26-6095-43e3-8feb-cf88d01a1f8d