ArticleDiagnostics (Basel, Switzerland)2024
Compound Heterozygous Variants in the
Article in Diagnostics (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.Genome medicine · 2026Article
- Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.Neurogenetics · 2025Article
- Characterization of a NovelInternational journal of molecular sciences · 2025Article
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Authors and funding
11 authors.
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Abstract
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and primarily affects skeletal development. This group includes several syndromes with overlapping but distinct clinical features, such as short-rib polydactyly syndrome (SRPS), Jeune asphyxiating thoracic dystrophy (JATD), Mainzer-Saldino syndrome (MZSDS), and cranioectodermal dysplasia (CED), also called Sensenbrenner syndrome. The most characterized features of skeletal ciliopathies are short stature, rhizomelic limb shortening, and thoracic narrowing to varying extents, with JATD presenting the most severe form. Here, we report a fetus with an extension of skeletal ciliopathy phenotype and compound heterozygous variants in the
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