ArticleBMJ case reports2019
Lethal multiple pterygium syndrome.
Article in BMJ case reports, 2019. 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.
- Lethal multiple pterygium syndrome in a newborn, a case report.Clinical case reports · 2023Article
- Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in theFrontiers in genetics · 2023Article
- Case Report: Novel compound heterozygous variants inFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
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Registered trials
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