Management of Genetic Syndromes 2005
DOI: 10.1002/0471695998.mgs005
|View full text |Cite
|
Sign up to set email alerts
|

Albinism andHermansky‐Pudlak Syndrome

Abstract: The term albinism refers to a group of congenital genetic abnormalities resulting from an inability of the pigment cell (melanocyte) to synthesize normal amounts of melanin pigment and is produced by mutations in at least 12 genes. Reduced melanin synthesis in the melanocytes of the skin, hair, and eyes produces oculocutaneous albinism, while a reduction primarily involving the retinal pigment epithelium produces ocular albinism. Hermansky‐Pudlak syndrome includes the triad of oculocutaneous albinism, a mild b… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

0
1
0

Year Published

2010
2010
2010
2010

Publication Types

Select...
1

Relationship

0
1

Authors

Journals

citations
Cited by 1 publication
(1 citation statement)
references
References 76 publications
0
1
0
Order By: Relevance
“…11.Genetic mutations associated with the population forming the Bantu migration from west to southern Africa over 3,000 years ago increased the average likelihood of albinism at birth from 1:20,000 to 1:3,000 in East Africa (King & Summers 2005), inferring that the albino population in Tanzania, a country with a population of roughly 40 million would be 13,000, 5,000 more than the TAS estimate of 8,000.…”
Section: Notesmentioning
confidence: 99%
“…11.Genetic mutations associated with the population forming the Bantu migration from west to southern Africa over 3,000 years ago increased the average likelihood of albinism at birth from 1:20,000 to 1:3,000 in East Africa (King & Summers 2005), inferring that the albino population in Tanzania, a country with a population of roughly 40 million would be 13,000, 5,000 more than the TAS estimate of 8,000.…”
Section: Notesmentioning
confidence: 99%