Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.
PCGF2
isolated cleft palate
rare monogenic diseases
recurrence risk
whole genome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
03
12
2021
accepted:
25
01
2022
entrez:
14
3
2022
pubmed:
15
3
2022
medline:
15
3
2022
Statut:
epublish
Résumé
Craniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes. Some cases of cleft lip and/or palate (CLP) are caused by mutations in single genes; however, complex interactions between genetic and environmental factors are considered to be responsible for the majority of non-syndromic CLP development. The aim of the current study was to identify genetic risk factors in patients with isolated cleft palate (CP) by whole genome sequencing. Patients with isolated CP (
Identifiants
pubmed: 35281813
doi: 10.3389/fgene.2022.828534
pii: 828534
pmc: PMC8907258
doi:
Types de publication
Journal Article
Langues
eng
Pagination
828534Informations de copyright
Copyright © 2022 Lace, Pajusalu, Livcane, Grinfelde, Akota, Mauliņa, Barkāne, Stavusis and Inashkina.
Déclaration de conflit d'intérêts
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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