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Carrozza C, Foca L, De Paolis E, et al. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease. Front Endocrinol (Lausanne). 2021;12:709758doi: 10.3389/fendo.2021.709758.
Carrozza, C., Foca, L., De Paolis, E., & Concolino, P. (2021). Genes and Pseudogenes: Complexity of the RCCX Locus and Disease. Frontiers in endocrinology, 12709758. https://doi.org/10.3389/fendo.2021.709758
Carrozza, Cinzia, et al. "Genes and Pseudogenes: Complexity of the RCCX Locus and Disease." Frontiers in endocrinology vol. 12 (2021): 709758. doi: https://doi.org/10.3389/fendo.2021.709758
Carrozza C, Foca L, De Paolis E, Concolino P. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease. Front Endocrinol (Lausanne). 2021 Jul 30;12:709758. doi: 10.3389/fendo.2021.709758. eCollection 2021. PMID: 34394006; PMCID: PMC8362596.
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Front Endocrinol (Lausanne). 2021 Jul 30;12:709758. doi: 10.3389/fendo.2021.709758. eCollection 2021.

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.

Frontiers in endocrinology

Cinzia Carrozza, Laura Foca, Elisa De Paolis, Paola Concolino

Affiliations

  1. Dipartimento di Scienze di Laboratorio e Infettivologiche, UOC Chimica, Biochimica e Biologia Molecolare Clinica, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Roma, Italy.
  2. Dipartimento di Scienze Biotecnologiche di base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, Roma, Italy.

PMID: 34394006 PMCID: PMC8362596 DOI: 10.3389/fendo.2021.709758

Abstract

Copy Number Variations (CNVs) account for a large proportion of human genome and are a primary contributor to human phenotypic variation, in addition to being the molecular basis of a wide spectrum of disease. Multiallelic CNVs represent a considerable fraction of large CNVs and are strictly related to segmental duplications according to their prevalent duplicate alleles. RCCX CNV is a complex, multiallelic and tandem CNV located in the major histocompatibility complex (MHC) class III region. RCCX structure is typically defined by the copy number of a DNA segment containing a series of genes - the serine/threonine kinase 19 (

Copyright © 2021 Carrozza, Foca, De Paolis and Concolino.

Keywords: CAH-X; Complement Component C4; Congenital Adrenal Hyperplasia (CAH); Copy Number Variation (CNV); RCCX; haplotypes

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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