ArticleFrontiers in endocrinology2023
Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the
Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Neurodevelopmental disorder and juvenile-onset tics associated with microdeletion of the SRRM2 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- RareFrontiers in medicine · 2025Article
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Authors and funding
10 authors at 2 institutions in 1 country.
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Abstract
Background: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. The pathology of NDDs is complex. A recent study found that variants in the Methods: A pregnant woman with congenital intelligence disorder came to our hospital for genetic diagnosis to predict the status of her fetus. Her mother and a brother also suffer from congenital intelligence disorder. She has a daughter with speech delay. Whole exome sequencing was used to identify a mutation (c.1415C>G) in the Conclusion: We report a family with an autosomal dominant genetic disorder caused by variants in the
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