One SNP on GGA1 in the oculocutaneous
albinism II (OCA2) gene had highly significant effects on body weight in weeks 11 to 12.
Born with the genetic condition oculocutaneous
albinism, Gallagher is severely visually impaired and uses her sighted guide Charlotte to help her.
Pulmonary aneurysms and intracardiac thrombi due to Behcet's disease in an African-American adolescent with oculocutaneous
Visual acuity and genetic classification of subjects with either Type I or Type II Oculocutaneous
Other research topics included specifically South African subjects, such as reconstructing the history of preliterate peoples of the subcontinent employing blood groups and protein characteristics, oculocutaneous
albinism in the black population, TSD in Jewish people, pentosuria, cystic fibrosis, Fanconi's anaemia, fragile X syndrome, the Y chromosome, mitochondrial DNA, haemoglobin variation (haemoglobinopathies) and disorders in the black and Indian populations, keratolytic winter erythema, lipoid proteinosis, intellectual disability, fetal alcohol syndrome, and other rarer conditions.
Condition Name Gene Location Inheritance Oculocutaneous
OCA1 TYR 11q14.
There are different types of albinism and Snowflake had oculocutaneous
albinism (OCA, sub-type 1A), which is commonly found in humans, according to the (http://www.
KS may precede, follow or develop concurrently with the visceral form and may involve the eyelid skin, conjunctiva, plica semilunaris, caruncle, lacrimal sac and rarely the lacrimal gland and orbit.
The brothers, who live in Chandler's Ford, Hants, were born with a condition called oculocutaneous
albinism, which affects their pigmentation and has left them with around 10 per cent of normal vision.
albinism is an inherited disorder characterised by absent or minimal production of a pigment called melanin.
Hermansky-Pudlak syndrome is a genetic disorder characterized by oculocutaneous
albinism, platelet dysfunction, and accumulation of ceroid-lipofuscin, a lipid-protein complex, in lysosomes (1).
More recently in south-eastern Nigeria, Bakare and Ikegwuonu (5) reported a case of a 13-year-old boy with co-morbid ASD and oculocutaneous