CAH-X Syndrome: Genetic and Clinical Profile
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology,Genetics,Molecular Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s40291-022-00588-0.pdf
Reference38 articles.
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2. Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, et al. Gene map of the extended human MHC. Nat Rev Genet. 2004;5:889–99.
3. Carrozza C, Foca L, De Paolis E, Concolino P. Genes and pseudogenes: complexity of the RCCX locus and disease. Front Endocrinol (Lausanne). 2021;30(12): 709758.
4. Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, et al. A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics. Eur J Hum Genet. 2017;25:702–10.
5. Bánlaki Z, Doleschall M, Rajczy K, Fust G, Szilágyi A. Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes. Genes Immun. 2012;13:530–5.
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