Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
VP Sharma, AL Fenwick, MS Brockop, SJ McGowan… - Nature …, 2013 - nature.com
Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder
with a prevalence of∼ 1 in 2,200 (refs.,). A specific genetic etiology can be identified in∼ …
with a prevalence of∼ 1 in 2,200 (refs.,). A specific genetic etiology can be identified in∼ …
Diagnostic value of exome and whole genome sequencing in craniosynostosis
KA Miller, SRF Twigg, SJ McGowan… - Journal of medical …, 2017 - jmg.bmj.com
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
[HTML][HTML] SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
E Calpena, A Cuellar, K Bala, SMA Swagemakers… - Genetics in …, 2020 - nature.com
Purpose Enrichment of heterozygous missense and truncating SMAD6 variants was
previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of …
previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of …
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
CM Justice, A Cuellar, K Bala, JA Sabourin… - Human genetics, 2020 - Springer
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic
craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this …
craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this …
[HTML][HTML] Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
RS Tooze, KA Miller, SMA Swagemakers, E Calpena… - Genetics in …, 2023 - Elsevier
Purpose Studies have previously implicated PRRX1 in craniofacial development, including
demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures …
demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures …
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
E Calpena, A Cuellar, K Bala… - Genetics in …, 2020 - gimjournal.org
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Page 1
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Eduardo …
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Eduardo …