Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia ; volume:17 ; number:1 ; day:4 ; month:3 ; year:2022 ; pages:1-8 ; date:12.2022
Orphanet journal of rare diseases ; 17, Heft 1 (4.3.2022), 1-8, 12.2022
- Urheber
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Taylor, Rachel L.
Soriano, Carla Sanjuro
Williams, Simon
Dzulova, Denisa
Ashworth, Jane
Hall, Georgina
Gale, Theodora
Lloyd, I. Christopher
Inglehearn, Chris F.
Toomes, Carmel
Douzgou, Sofia
Black, Graeme C.
- Beteiligte Personen und Organisationen
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SpringerLink (Online service)
- DOI
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10.1186/s13023-022-02239-3
- URN
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urn:nbn:de:101:1-2022053119543276110898
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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15.08.2025, 07:33 MESZ
Datenpartner
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Beteiligte
- Taylor, Rachel L.
- Soriano, Carla Sanjuro
- Williams, Simon
- Dzulova, Denisa
- Ashworth, Jane
- Hall, Georgina
- Gale, Theodora
- Lloyd, I. Christopher
- Inglehearn, Chris F.
- Toomes, Carmel
- Douzgou, Sofia
- Black, Graeme C.
- SpringerLink (Online service)
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