Results 61 to 70 of about 7,886 (197)
Genetics Selection Evolution, 2017 Background Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype.
Sophie Rothammer +7 more
doaj +1 more source
South African Journal of Occupational Therapy, 2020 Background and aim: The World Federation of Occupational Therapists' urges occupational therapists to recognise when people are being denied the right to participate in occupations and advocate for change. People with oculocutaneous albinism face stigma
Lara Mather +7 more
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
, 2022 Background Multiple studies have examined the prevalence of nonmelanoma skin cancers (NMSC) in patients with oculocutaneous albinism (OCA). However, to date, no studies have examined this data in Caribbean populations.
Louis, Shesly J. +11 more
core +1 more source
Beyond Rare: Documenting Albino‐Like Phenotypes as a Recurring Trait in the Juan Fernandez Fur Seal
Marine Mammal Science, Volume 42, Issue 4, October 2026.
Constanza Toro‐Valdivieso +5 more
wiley +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
F1000Research, 2014 Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA. However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.
Mickaila Johnston +3 more
doaj +1 more source
Studies on serum level of some trace elements in oculocutaneous albinism subjects in Owerri metropolis [PDF]
, 2020 Studies on serum level of some trace elements in oculocutaneous albinism subject in Owerri metropolis was carried out using standard methods. Sixty (60) volunteer subjects made of 30 male and 30 female were used for the study.
Kaosisochukwu, Catherine +7 more
core +1 more source
Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome
Pediatric Dermatology, Volume 43, Issue 3, Page 706-710, May/June 2026.ABSTRACT 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
Albane Badet +4 more
wiley +1 more source