Article

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort

2025-12-15

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Orofacial clefts (OFCs) are the most frequent congenital craniofacial anomalies that occur during embryonic development. The incidence is ~1 in 700 live births; it may occur in isolation or with other abnormalities, such as limb deformities. Congenital limb malformations are the second most prevalent birth defect, affecting 1 per 500 to 1000 live births. It c...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f07e21cd-9800-555e-ad83-5710168c4a48
DOI: 10.21203/rs.3.rs-8340088/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohortDOI 10.21203/rs.3.rs-8340088/v1Read

Genomic Etiology of Pierre Robin Sequence in Africans with Orofacial CleftsSemantic proximity Read

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?Semantic proximity Read

Exome sequencing improves genetic diagnosis of congenital orofacial cleftsSemantic proximity Read

Consensus-based Detection of Aetiologic Copy Number Variants For Syndromic Orofacial Clefts Utilising Whole Exome Sequencing of Case Parent TriosSemantic proximity Read

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathwaysSemantic proximity Read

Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.Semantic proximity Read

Genetics and orofacial clefts: a clinical perspectiveSemantic proximity Read

Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL±P.Semantic proximity Read

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial cleftingSemantic proximity Read

Genomic analyses in African populations identify novel risk loci for cleft palateSemantic proximity Read

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing StudySemantic proximity Read

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.Semantic proximity Read