A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle. [PDF]
Anim GenetAnimal Genetics, Volume 57, Issue 3, June 2026.
Eager KLM +5 more
europepmc +2 more sources
A Phenomenological Analysis of Knowledge, Impact and Coping Strategies to Climate Change: Experiences of Persons With Albinism. [PDF]
Public Health ChallPersons with albinism in this study have inadequate knowledge regarding climate change, self‐reported eye and skin conditions, and utilize insufficient protection strategies. Although they adopt various strategies to cope with climate change effects, these are insufficient for their full protection.
Nkosi BN +4 more
europepmc +2 more sources
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]
Pigment Cell Melanoma ResThis study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Gillis MF +14 more
europepmc +2 more sources
Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]
Case Rep PediatrPurpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Niknam J +3 more
europepmc +2 more sources
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma. [PDF]
Pigment Cell Melanoma ResIndividuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Johansson PA +10 more
europepmc +2 more sources
Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome. [PDF]
Pediatr DermatolABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Badet A +4 more
europepmc +2 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017 Review on Oculocutaneous ...
Ray, Kunal +2 more
openaire +2 more sources
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
BMC Medical Genetics, 2019 Background Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for ...
Qi Yang +11 more
doaj +1 more source
Indian Journal of Ophthalmology, 2019 Oculocutaneous albinism is characterized by partial or complete absence of melanin in retinal pigment epithelium (RPE) and uveal melanocytes. Absence of typical fundal background from RPE and choroid makes it difficult to diagnose retinal disorders in ...
Anil B Gangwe +4 more
doaj +1 more source
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. [PDF]
PLoS ONE, 2015 Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.The purpose of this study was to ...
Yun Wang +7 more
doaj +1 more source