A novel homozygous missense variant in <i>POC1B</i> causes cone dystrophy in a consanguineous Pakistani family

Authors

Abdur Rashid (ORCID: https://orcid.org/0009-0006-3145-6707)
Atta Ur Rehman (ORCID: https://orcid.org/0000-0002-5591-1835)
Ijaz Anwar (ORCID: https://orcid.org/0000-0001-7213-7178)
Ashfaq Ahmad (ORCID: https://orcid.org/0000-0002-7639-2472)
Haider Ali Khan (ORCID: https://orcid.org/0000-0003-0586-3633)
Muhammad Ansar (ORCID: https://orcid.org/0000-0001-7299-3185)
Asad Munir (ORCID: https://orcid.org/0000-0001-5461-3599)
Mukhtar Ullah (ORCID: https://orcid.org/0000-0003-0911-0831)
Inam Ullah Khan (ORCID: https://orcid.org/0009-0007-4456-6996)
Sergey Oreshkov (ORCID: https://orcid.org/0000-0003-2030-5605)
Ubaid Ullah (ORCID: https://orcid.org/0000-0002-2539-2296)
Sabawoon Shah

Institutions

Gomal University (PK)
University of Basel (CH)
Hazara University (PK)
Saidu Teaching Hospital (PK)
Dow University of Health Sciences (PK)
Fondation Asile des Aveugles (CH)
Institute of Molecular and Clinical Ophthalmology Basel (CH)
University of Lausanne (CH)

Publication Details

Journal: Ophthalmic Genetics
Published: 2024-11-20
DOI: https://doi.org/10.1080/13816810.2024.2430700
Primary Topic: Retinal Development and Disorders
Type: article
Field-Weighted Citation Impact: 0.00

Funders

Higher Education Commision, Pakistan

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article

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family

Abdur Rashid, Atta Ur Rehman, Ijaz Anwar, Ashfaq Ahmad et al.

Nov 20, 2024

Ophthalmic Genetics

Retinal Development and Disorders

article

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family

Abdur Rashid, Atta Ur Rehman, Ijaz Anwar, Ashfaq Ahmad, Haider Ali Khan, Muhammad Ansar, Asad Munir, Mukhtar Ullah, Inam Ullah Khan, Sergey Oreshkov, Ubaid Ullah, Sabawoon Shah

November 20, 2024article en

Abstract

No abstract available for this paper.

Ophthalmic GeneticsVol. 46(1)

Gomal University (PK), University of Basel (CH), Hazara University (PK), Saidu Teaching Hospital (PK), Dow University of Health Sciences (PK), Fondation Asile des Aveugles (CH), Institute of Molecular and Clinical Ophthalmology Basel (CH), University of Lausanne (CH)

Higher Education Commision, Pakistan

Openalex Percentile: Top 81%

Retinal Development and Disorders

DOI Source OpenAlex

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A novel homozygous missense variant in <i>POC1B</i> causes cone dystrophy in a consanguineous Pakistani family — Abdur Rashid, Atta Ur Rehman, et al. · Ophthalmic Genetics (2024) | TGRS Research Map | TGRS