ArticleAJNR. American journal of neuroradiology
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.
Article in AJNR. American journal of neuroradiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 32 citations in OpenAlex.
- The ALX4 dimer structure provides insight into how disease alleles impact function.Nature communications · 2025Article
- Intracranial lipoma with extra cranial subcutaneous component with a midline bony defect and persistent falcine sinus.BJR case reports · 2023Article
- A Rare Congenital Cause of Epilepsy.Cureus · 2020Article
- Transcription Factors of the Alx Family: Evolutionarily Conserved Regulators of Deuterostome Skeletogenesis.Frontiers in genetics · 2020Review
- A systematic approach in the diagnosis of paediatric skull lesions: what radiologists need to know.Polish journal of radiology · 2019Review
- ALX4, an epigenetically down regulated tumor suppressor, inhibits breast cancer progression by interfering Wnt/β-catenin pathway.Journal of experimental & clinical cancer research : CR · 2017Article
- Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Review
- Multiple occipital, parietal, temporal, and frontal foramina: a variant of enlarged parietal foramina in an infant.Balkan medical journal · 2014Article
- Article
- Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.European journal of human genetics : EJHG · 2006Article
- Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.Clinical neuropathologyArticle
- Intracranial and subcutaneous lipoma associated with sagittal sinus fenestration and falcine sinus.AJNR. American journal of neuroradiologyArticle
- Enlarged parietal foramina: MR imaging features in the fetus and neonate.AJNR. American journal of neuroradiologyArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.
Indexed as
Identifiers
15569759PMC8148717W2140997172What 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.