Academic Journal
The heterogeneous genetic architectures of orofacial clefts.
| Τίτλος: | The heterogeneous genetic architectures of orofacial clefts. |
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| Συγγραφείς: | Robinson K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Curtis SW; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Leslie EJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu. |
| Πηγή: | Trends in genetics : TIG [Trends Genet] 2024 May; Vol. 40 (5), pp. 410-421. Date of Electronic Publication: 2024 Mar 13. |
| Τύπος έκδοσης: | Journal Article; Review |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier Trends Journals Country of Publication: England NLM ID: 8507085 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0168-9525 (Print) Linking ISSN: 01689525 NLM ISO Abbreviation: Trends Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: Cambridge : Elsevier Trends Journals Original Publication: [Amsterdam, The Netherlands : Elsevier Science Publishers B.V., c1985- |
| Ιατρικοί όροι (MeSH): | Cleft Lip*/genetics , Cleft Palate*/genetics, Humans ; Phenotype ; Genetic Predisposition to Disease ; Risk Factors |
| Περίληψη: | Orofacial clefts (OFCs) are common, affecting 1:1000 live births. OFCs occur across a phenotypic spectrum - including cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP) - and can be further subdivided based on laterality, severity, or specific structures affected. Herein we review what is known about the genetic architecture underlying each of these subtypes, considering both shared and subtype-specific risks. While there are more known genetic similarities between CL and CLP than CP, recent research supports both shared and subtype-specific genetic risk factors within and between phenotypic classifications of OFCs. Larger sample sizes and deeper phenotyping data will be of increasing importance for the discovery of novel genetic risk factors for OFCs and various subtypes going forward. (Copyright © 2024 Elsevier Ltd. All rights reserved.) |
| Competing Interests: | Declaration of interests The authors have no conflicts of interest to disclose. |
| Contributed Indexing: | Keywords: cleft lip; cleft palate; genetic heterogeneity; orofacial clefts; phenotypic heterogeneity |
| Entry Date(s): | Date Created: 20240313 Date Completed: 20240507 Latest Revision: 20260115 |
| Update Code: | 20260130 |
| DOI: | 10.1016/j.tig.2024.02.004 |
| PMID: | 38480105 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 0168-9525 |
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| DOI: | 10.1016/j.tig.2024.02.004 |