ArticleJournal of pediatric genetics2022
A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis.
Article in Journal of pediatric genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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
1 citing paper in PubMed, 2 citations in OpenAlex.
- Congenital Dislocation of the Knee in the Delivery Room.The American journal of case reports · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Larsen's syndrome is characterized by dislocation of multiple large joints, digital anomalies, craniofacial dysmorphism, and short stature. In this paper, we describe a case of a 5-month-old boy with a triad of cardinal features in association with other signs. The diagnosis was confirmed by exome sequencing, which led to the identification of a novel missense variant NM_001457.4:c.4928C > G (p.Ala1643Gly) in the
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Registered trials
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