ArticleFrontiers in genetics2021
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Article in Frontiers in genetics, 2021. 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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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
3 citing papers in PubMed, 4 citations in OpenAlex.
- Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.BMC pregnancy and childbirth · 2024Article
- Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report.BMC medical genomics · 2024Article
- High Incidence ofBalkan medical journal · 2024Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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Abstract
Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes. Ciliopathies are often characterized by multiple system defects. However, it is not easy to make a definite diagnosis in the prenatal period only based on the imageology. In this report, eight new prenatal cases from five unrelated families diagnosed with ciliopathies were systematically examined. The clinical manifestations of these fetuses showed such prenatal diagnostic features as occipital encephalocele, and polydactyly and polycystic kidneys.
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