ArticleAmerican journal of medical genetics. Part A2016
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 40 citations in OpenAlex.
- ASH2L-mediated H3K4me3 methylation governs palatal development by regulating WNT5B.Epigenetics & chromatin · 2026Article
- Pediatric nasal dermoid sinus cysts: advances in pathogenesis, management strategies, and translational research-a multidisciplinary management perspective.Frontiers in pediatrics · 2025Review
- TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.Development (Cambridge, England) · 2024Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids.Genome biology and evolution · 2023Article
- Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.Balkan journal of medical genetics : BJMG · 2022Article
- The Skull's Girder: A Brief Review of the Cranial Base.Journal of developmental biology · 2021Review
- The SIX Family of Transcription Factors: Common Themes Integrating Developmental and Cancer Biology.Frontiers in cell and developmental biology · 2021Review
- Generation and characterization of Six2 conditional mice.Genesis (New York, N.Y. : 2000) · 2020Article
- Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.Developmental biology · 2020Article
- Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.Plastic and reconstructive surgery. Global open · 2019Article
- Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.Journal of dental research · 2019Article
- Transcriptome analysis of Xenopus orofacial tissues deficient in retinoic acid receptor function.BMC genomics · 2018Article
- Respective contribution of the cephalic neural crest and mesoderm to SIX1-expressing head territories in the avian embryo.BMC developmental biology · 2017Article
- Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development.Scientific reports · 2017Article
- Relationship between miR-21 and miR-182 levels in peripheral blood and gastric cancer tissue.Oncology letters · 2017Article
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Article
- SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.Journal of human genetics · 2016Article
- Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Molecular syndromology · 2016Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessive mutations in members of the aristaless gene family, resulting in abnormal cranial neural crest migration and differentiation. We report a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior fontanelle, cranial base anomalies, and sagittal synostosis. Chromosomal microarray identified a heterozygous 108.3 kilobase deletion of chromosome 2p21 segregating with phenotype and limited to the sine oculis homeobox gene SIX2 and surrounding noncoding DNA. Similar to the human SIX2 deletion phenotype, one mouse model of frontonasal dysplasia, brachyrrhine, exhibits dominant inheritance and impaired cranial base chondrogenesis associated with reduced Six2 expression. We report the first human autosomal dominant frontonasal dysplasia syndrome associated with SIX2 deletion and with phenotypic similarities to murine models of Six2 Loss-of-function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.