ArticleMolecular syndromology2022
Pre- and Postnatal Characterization of Autosomal Recessive
Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed, 7 citations in OpenAlex.
- A novelFrontiers in neuroscience · 2025Article
- Novel autosomal recessive SINO syndrome-associatedHeliyon · 2024Article
- Review
- Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice.International journal of molecular sciences · 2024Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Heterozygous loss-of-function variants in the last 2 exons of Case Presentation: We present here a 2.5-year-old female with profound global developmental delays and spasticity who was found by fetal ultrasound in week 19 of gestation to have bilateral talipes equinovarus and severe bilateral ventriculomegaly. Postnatal genetic testing revealed biallelic variants in Discussion: To our knowledge, this is the first living individual reported with the autosomal recessive form of a
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