ReviewWiley interdisciplinary reviews. Developmental biology2017
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
Review in Wiley interdisciplinary reviews. Developmental biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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
22 citing papers in PubMed, 45 citations in OpenAlex.
- A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.Developmental biology · 2026Article
- A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.Molecular syndromology · 2025Article
- Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes.The Journal of clinical investigation · 2025Article
- Article
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.BMC medical genomics · 2024Article
- Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Scientific reports · 2023Article
- Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.Molecular and cellular biology · 2023Article
- A clinically-relevant residue of POLR1D is required for Drosophila development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Nucleolin loss of function leads to aberrant Fibroblast Growth Factor signaling and craniofacial anomalies.Development (Cambridge, England) · 2022Article
- U8 variants on the brain: a small nucleolar RNA and human disease.RNA biology · 2022Review
- First case report of Nager syndrome patient from Georgia.SAGE open medical case reports · 2022Article
- Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report.Annals of medicine and surgery (2012) · 2021Article
- Article
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.Journal of clinical laboratory analysis · 2020Article
- Ift88 is involved in mandibular development.Journal of anatomy · 2020Article
- What Do Animal Models Teach Us About Congenital Craniofacial Defects?Advances in experimental medicine and biology · 2020Review
- Developmental processes regulate craniofacial variation in disease and evolution.Genesis (New York, N.Y. : 2000) · 2019Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. In particular, we focus on Treacher Collins syndrome, Acrofacial Dysostosis-Cincinnati Type as well as Nager and Miller syndromes, and animal models that provide new insights into the molecular and cellular basis of these congenital syndromes. We emphasize the etiologic and pathogenetic similarities between these birth defects, specifically their unique deficiencies in global processes including ribosome biogenesis, DNA damage repair, and pre-mRNA splicing, all of which affect neural crest cell development and result in similar tissue-specific defects. WIREs Dev Biol 2017, 6:e263. doi: 10.1002/wdev.263 For further resources related to this article, please visit the WIREs website.
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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.