ArticleWorld journal of clinical cases2020
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report.
Article in World journal of clinical cases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- The opposite effect of ELP4 and ZEB2 on TCF7L2-mediated microglia polarization in ischemic stroke.Journal of cell communication and signaling · 2025Article
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.Journal of autism and developmental disorders · 2023Article
- Interneuron odyssey: molecular mechanisms of tangential migration.Frontiers in neural circuits · 2023Review
- Functional divergence of the two Elongator subcomplexes during neurodevelopment.EMBO molecular medicine · 2022Article
- Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.Nature communications · 2021Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe described the main features of an infant diagnosed with facial dysmorphic, language failure, intellectual disability and congenital malformations to strengthen our understanding of the disease. Currently, treatment is only rehabilitation and surgery for cleft lip and palate. CASE SUMMARY: The proband was a 2-years-8-months-old girl. Familial history was negative for congenital malformations or intellectual disability. The patient had microcephaly, upward-slanting palpebral fissures, depressed nasal bridge, bulbous nose and bilateral cleft lip and palate. Brain magnetic resonance imaging showed cortical atrophy and band heterotopia. Her motor and intellectual development is delayed. A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene (
conclusionThere is no treatment for the
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