Case Report of Recurrent Popliteal Pterygium Syndrome
Abstract: A 23 week pregnant woman with a history of a child with facial and limb malformations underwent a fetal ultrasound revealing similar abnormalities in the current fetus. Genetic testing confirmed a new IRF6 gene mutation consistent with popliteal pterygium syndrome type 1. This case highlights the potential for recurrence and the role of genetic testing in prenatal diagnosis.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Case Report of Recurrent Popliteal Pterygium Syndrome ; day:03 ; month:06 ; year:2024
Journal of fetal medicine ; (03.06.2024)
- Beteiligte Personen und Organisationen
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Rangholiya, Komal
Ponkiya, Pruthviben K.
Desai, Purvi
Chauhan, Binodini
Patel, Shimolee
- DOI
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10.1055/s-0044-1787057
- URN
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urn:nbn:de:101:1-2407181046559.306733680703
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 11:02 MESZ
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Beteiligte
- Rangholiya, Komal
- Ponkiya, Pruthviben K.
- Desai, Purvi
- Chauhan, Binodini
- Patel, Shimolee
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