ArticleJournal of medical case reports2014
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
Article in Journal of medical case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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
4 citing papers in PubMed, 7 citations in OpenAlex.
- Distinct IRF6 dysfunction mechanisms in syndromic orofacial clefts: Computational evidence for allosteric versus direct disruption.Computational and structural biotechnology journal · 2025Article
- Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.Molecular genetics & genomic medicine · 2023Article
- Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature.Plastic and reconstructive surgery. Global open · 2021Article
- Popliteal Pterygium Syndrome with a Family History of Van der Woude Syndrome: A Case Report.Journal of the West African College of SurgeonsArticle
Corrections and comments
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Authors and funding
6 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPopliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION: A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene.
conclusionsWe report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family.
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