ArticleHuman genome variation2018
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.
Article in Human genome variation, 2018. 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, 5 citations in OpenAlex.
- Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.Scientific reports · 2024Article
- Mutated Transcripts ofMolecular syndromology · 2023Article
- A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.Journal of clinical laboratory analysis · 2020Article
- A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.Child neurology openArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat-Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
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Registered trials
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