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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| Format: | Journal article |
| Language: | English |
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Springer Nature
2023
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| _version_ | 1797110824647524352 |
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| author | Kini, U |
| author_facet | Kini, U |
| author_sort | Kini, U |
| collection | OXFORD |
| 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. |
| first_indexed | 2024-03-07T08:00:10Z |
| format | Journal article |
| id | oxford-uuid:34986c06-174b-4cb4-b954-989544bcec35 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T08:00:10Z |
| publishDate | 2023 |
| publisher | Springer Nature |
| record_format | dspace |
| spelling | oxford-uuid:34986c06-174b-4cb4-b954-989544bcec352023-09-28T11:22:58ZGenetics and orofacial clefts: a clinical perspectiveJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:34986c06-174b-4cb4-b954-989544bcec35EnglishSymplectic ElementsSpringer Nature2023Kini, UOrofacial 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. |
| spellingShingle | Kini, U 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 |
| work_keys_str_mv | AT kiniu geneticsandorofacialcleftsaclinicalperspective |