Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.

Genes - 28 Mar 2021

Sajid Zureesha, Yousaf Sairah, Waryah Yar M, Mughal Tauqeer A, Kausar Tasleem, Shahzad Mohsin, Rao Ali R, Abbasi Ansar A, Shaikh Rehan S, Waryah Ali M, Riazuddin Saima, Ahmed Zubair M

Abstract excerpt

Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as partial to complete loss of melanin in the skin, hair, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Albinism, Oculocutaneous
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Heterogeneity

Share to Heterozygote

Share to Membrane Transport Proteins

Share to Models, Molecular

Share to Monophenol Monooxygenase

Source

Open in PubMed Open full text

Identifiers

PMID: 33800529
DOI: 10.3390/genes12040492
PMCID: PMC8066997

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Causes of Oculocutaneous Albinism in Pakistani Population.PMID 33800529Read ↗

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.Semantic proximity Read ↗

Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.Semantic proximity Read ↗

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.Semantic proximity Read ↗

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Semantic proximity Read ↗

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.Semantic proximity Read ↗

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.Semantic proximity Read ↗

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsSemantic proximity Read ↗

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.Semantic proximity Read ↗

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Semantic proximity Read ↗

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani familiesSemantic proximity Read ↗

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.Semantic proximity Read ↗

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.