These mutations affect melanosome formation and cellular trafficking in other organs and also lead to oculocutaneous
albinism, neutropenia, pulmonary fibrosis, and granulomatous colitis.
albinism in sub-Saharan Africa: Adverse sun-associated health effects and photoprotection.
This genetically heterogeneous condition can be subdivided into either oculocutaneous
or ocular albinism with the former characterised by hypopigmentation of the hair, eyes and skin.
Originally described by Hermansky and Pudlak in 1959, (77) Hermansky-Pudlak Syndrome (HPS) is caused by a related group of autosomal recessive disorders that are characterized by the triad of oculocutaneous
albinism, bleeding diathesis due to a platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin.
albinism (OCA) is a group of genetically heterogeneous autosomal recessively inherited disorders characterized by decreased or absent pigmentation in the hair, skin, and eyes.
CHS can be suspected on presentation of partial oculocutaneous
albinism with a history of recurrent infections.
albinism, exome sequencing, genetic analysis, TYR gene
manifestations observed in multisystem disorders.
telephone 983 She suffers from oculocutaneous
albinism and nystagmus, that have left her with no central vision and extremely limited and very blurred peripheral vision.
2014) pointedly noted that oculocutaneous
albinism results in a loss of visual acuity that is maladaptive, and further leads to increased rates of cancer among humans (Hu et al.
AT is characterized by progressive neurodegeneration, immunodeficiency, oculocutaneous
telangiectasias, endocrine abnormalities, high cancer incidence, genome instability, and hypersensitivity to ionizing radiation [39, 40].
One SNP on GGA1 in the oculocutaneous
albinism II (OCA2) gene had highly significant effects on body weight in weeks 11 to 12.