Oculocutaneous albinism type I
- Oculocutaneous albinism type I
-
| Oculocutaneous albinism type I |
| Classification and external resources |
| OMIM |
203100 |
Oculocutaneous Albinism Type I or –Type 1A (OCA1A)[1] is an autosomal recessive skin disease associated with albinism. This type of albinism is caused when the gene OCA1 does not function properly.
The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range of sub-band 4 of band 1, and sub-band 1 of band 2.
References
Categories:
- Genetic disorder stubs
- Autosomal recessive disorders
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