Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2415

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report ; volume:22 ; number:1 ; day:26 ; month:3 ; year:2022 ; pages:1-9 ; date:12.2022
BMC ophthalmology ; 22, Heft 1 (26.3.2022), 1-9, 12.2022

Urheber: Young, Su Ling
Stanton, Chloe M.
Livesey, Benjamin J.
Marsh, Joseph A.
Cackett, Peter D.

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1186/s12886-022-02353-7

URN: urn:nbn:de:101:1-2022061723231985606340

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

Letzte Aktualisierung: 15.08.2025, 07:38 MESZ

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Beteiligte

Young, Su Ling
Stanton, Chloe M.
Livesey, Benjamin J.
Marsh, Joseph A.
Cackett, Peter D.
SpringerLink (Online service)

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

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USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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