Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: 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

Creator: 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.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-022-02239-3

URN: urn:nbn:de:101:1-2022053119543276110898

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:33 AM CEST

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Associated

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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Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

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