ReviewAmerican journal of medical genetics. Part A2017
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Review in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.
- Loss of SATB2 in colorectal cancer is associated with inferior survival and adverse clinicopathologic features: a meta-analysis.American journal of clinical pathology · 2026Pooled it
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- Differential Neurodevelopmental Disruption by Bisphenol A (BPA) and Valproic Acid (VPA) in Human Forebrain Organoids.bioRxiv : the preprint server for biology · 2026Article
- Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.AME case reports · 2026Article
- Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.European journal of human genetics : EJHG · 2025Review
- Advances in research on SATB2 and its role in tumor development.Cell & bioscience · 2025Review
- Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.Orphanet journal of rare diseases · 2025Article
- Current insights on the genetics and mechanisms of MSX1-associated cleft palate.Frontiers in dental medicine · 2025Review
- Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.Metabolic brain disease · 2024Article
- Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction.Journal of autism and developmental disorders · 2024Article
- Generation and Characterization of Three Novel Mouse Mutant Strains Susceptible to Audiogenic Seizures.Cells · 2024Article
- Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring.Nature communications · 2024Article
- Spatial transcriptome reveals the region-specific genes and pathways regulated by Satb2 in neocortical development.BMC genomics · 2024Article
- Transcriptional regulation in the development and dysfunction of neocortical projection neurons.Neural regeneration research · 2024Review
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Article
- Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity.Science advances · 2023Article
- Genetic analysis of a child withExperimental and therapeutic medicine · 2023Article
- Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.Human molecular genetics · 2023Review
- In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes.Pediatric research · 2023Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines. The SATB2-associated syndrome registry has now been started and that will allow gathering further clinical information and refining the provided surveillance recommendations. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
Indexed as
Identifiers
What OpenQuestion holds
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.