The Genomic Architecture of Bladder Exstrophy Epispadias Complex

The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiol...

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Autores principales: Beaman, Glenda M., Cervellione, Raimondo M., Keene, David, Reutter, Heiko, Newman, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391660/
https://www.ncbi.nlm.nih.gov/pubmed/34440323
http://dx.doi.org/10.3390/genes12081149
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author Beaman, Glenda M.
Cervellione, Raimondo M.
Keene, David
Reutter, Heiko
Newman, William G.
author_facet Beaman, Glenda M.
Cervellione, Raimondo M.
Keene, David
Reutter, Heiko
Newman, William G.
author_sort Beaman, Glenda M.
collection PubMed
description The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components.
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spelling pubmed-83916602021-08-28 The Genomic Architecture of Bladder Exstrophy Epispadias Complex Beaman, Glenda M. Cervellione, Raimondo M. Keene, David Reutter, Heiko Newman, William G. Genes (Basel) Review The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. MDPI 2021-07-28 /pmc/articles/PMC8391660/ /pubmed/34440323 http://dx.doi.org/10.3390/genes12081149 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Beaman, Glenda M.
Cervellione, Raimondo M.
Keene, David
Reutter, Heiko
Newman, William G.
The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title_full The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title_fullStr The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title_full_unstemmed The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title_short The Genomic Architecture of Bladder Exstrophy Epispadias Complex
title_sort genomic architecture of bladder exstrophy epispadias complex
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391660/
https://www.ncbi.nlm.nih.gov/pubmed/34440323
http://dx.doi.org/10.3390/genes12081149
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