The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
Open Access
- 30 January 2021
- journal article
- research article
- Published by Elsevier BV in Human Genetics and Genomics Advances
- Vol. 2 (2), 100025
- https://doi.org/10.1016/j.xhgg.2021.100025
Abstract
No abstract availableKeywords
Funding Information
- National Institutes of Health
This publication has 59 references indexed in Scilit:
- Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleftPLoS Genetics, 2019
- High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial DevelopmentCell Reports, 2018
- A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiencyClinical Genetics, 2017
- A developmental transcriptomic analysis ofPax1andPax9in embryonic intervertebral disc developmentBiology Open, 2016
- Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS LociAmerican Journal of Human Genetics, 2015
- Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral CleftsGenetics, 2014
- Pax1 acts as a negative regulator of chondrocyte maturationExperimental Cell Research, 2013
- Improved whole-chromosome phasing for disease and population genetic studiesNature Methods, 2013
- A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4Nature Genetics, 2010
- Cleft lip and palate results from Hedgehog signaling antagonism in the mouse: Phenotypic characterization and clinical implicationsBirth Defects Research Part A: Clinical and Molecular Teratology, 2010