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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2415

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: 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

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

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12886-022-02353-7

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

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

Last update: 15.08.2025, 7:38 AM CEST

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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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Other Objects (12)

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

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

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

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

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

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

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

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

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

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

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

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

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

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

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

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