Genetics and orofacial clefts: a clinical perspective

Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be multifactorial in origin. Chromosomal and monogenic variants account for the syndromic forms and for some of the non-syndromic inherited forms. Th...

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Autor principal: Kini, Usha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
General
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287552/
https://www.ncbi.nlm.nih.gov/pubmed/37349452
http://dx.doi.org/10.1038/s41415-023-5994-3
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author_facet Kini, Usha
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description Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be multifactorial in origin. Chromosomal and monogenic variants account for the syndromic forms and for some of the non-syndromic inherited forms. This review discusses the importance of genetic testing and the current clinical strategy to deliver a genomics service that is of direct benefit to patients and their families.
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spelling pubmed-102875522023-06-24 Genetics and orofacial clefts: a clinical perspective Kini, Usha Br Dent J General Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be multifactorial in origin. Chromosomal and monogenic variants account for the syndromic forms and for some of the non-syndromic inherited forms. This review discusses the importance of genetic testing and the current clinical strategy to deliver a genomics service that is of direct benefit to patients and their families. Nature Publishing Group UK 2023-06-23 2023 /pmc/articles/PMC10287552/ /pubmed/37349452 http://dx.doi.org/10.1038/s41415-023-5994-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) .© The Author(s) 2023
spellingShingle General
Kini, Usha
Genetics and orofacial clefts: a clinical perspective
title Genetics and orofacial clefts: a clinical perspective
title_full Genetics and orofacial clefts: a clinical perspective
title_fullStr Genetics and orofacial clefts: a clinical perspective
title_full_unstemmed Genetics and orofacial clefts: a clinical perspective
title_short Genetics and orofacial clefts: a clinical perspective
title_sort genetics and orofacial clefts: a clinical perspective
topic General
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287552/
https://www.ncbi.nlm.nih.gov/pubmed/37349452
http://dx.doi.org/10.1038/s41415-023-5994-3
work_keys_str_mv AT kiniusha geneticsandorofacialcleftsaclinicalperspective

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