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Albinism
- ... of people with Angelman syndrome also have oculocutaneous albinism type 2. This condition occurs when people have ... of melanin, leading to the characteristic features of albinism. More About This Health Condition More than 80 ...
- ... people with the most common form of ocular albinism, which is called the Nettleship-Falls type or ... and other eye abnormalities in people with ocular albinism.Most forms of albinism result from a reduced ...
- ... TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism called rufous oculocutaneous albinism, which has been described ...
- ... gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production ... life. These mutations cause a form of oculocutaneous albinism called type 1A (OCA1A). People with this form ...
- ... in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in ... problems with vision that are characteristic of oculocutaneous albinism type 4. More About This Health Condition MedlinePlus ...
- ... gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is caused by mutations in the OCA2 ... have many of the usual features of oculocutaneous albinism type 2; however, they typically have red hair ...
- ... this form of the condition typically have oculocutaneous albinism, a condition characterized by fair skin, light-colored ... characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 ...
- ... of the condition. Affected individuals typically have oculocutaneous albinism, a condition characterized by fair skin, light-colored ... people with Hermansky-Pudlak syndrome can develop oculocutaneous albinism. The absence of dense granules within platelets leads ...
- ... Winter RM. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol. 1998 Jan; ...
- ... color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes ...
