Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism-Reference-Cited by-同舟云学术

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Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism

Published:2021-02-22 Issue:3 Volume:42 Page:230-238
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kessel Line¹²^ORCID,Kjer Birgit¹,Lei Ulrikke²³^ORCID,Duno Morten⁴,Grønskov Karen⁴^ORCID

Affiliation:

1. Department of Ophthalmology, Rigshospitalet-Kennedy Center, Denmark

2. Department of Clinical Medicine, University of Copenhagen, Copenhagen Denmark

3. Department of Dermatology and Allergy, Herlev and Gentofte Hospital, Denmark

4. Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Denmark

Funder

Danish Association of the Blind and Fight for Sight

Danish Association of the Blind

Fight for Sight Denmark

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1881979

Reference29 articles.

1. The Phenotypic Spectrum of Albinism

2. Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism

3. Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

4. Clinical and genetic variability in children with partial albinism

5. Increasing the complexity: new genes and new types of albinism

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1. Neural (Sensory) Retina;Ocular Pathology;2025

2. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations;Experimental Eye Research;2024-02

3. Visual acuity improvement in children with albinism beyond the first decade of life;PLOS ONE;2024-01-17

4. Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?;Children;2023-12-11

5. The molecular landscape of oculocutaneous albinism in India and its therapeutic implications;European Journal of Human Genetics;2023-11-30

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