Albinism causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Albinism}} | {{Albinism}} | ||
{{CMG}} | {{CMG}}; {{AE}}{{S.M}} | ||
==Overview== | ==Overview== | ||
Albinism is | [[Albinism]] is caused by [[genetic mutations]] that impair [[melanin]] synthesis. The number of [[melanocytes]] is preserved. | ||
==Causes== | |||
===Common Causes=== | |||
* [[Albinism]] is caused by [[genetic mutations]] that impair [[melanin]] synthesis <ref name="pmid17980020">{{cite journal| author=Grønskov K, Ek J, Brondum-Nielsen K| title=Oculocutaneous albinism. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 43 | pmid=17980020 | doi=10.1186/1750-1172-2-43 | pmc=2211462 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17980020 }} </ref> | |||
* [[Genetic mutations]] that lead to different subtypes of [[albinism]] are mentioned in both [[classification]] and [[pathophysiology]] sections | |||
* The number of [[melanocytes]] is preserved <ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | |||
[[Category:Endocrinology]] | |||
[[Category:Dermatology]] | |||
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[[Category:Needs overview]] | |||
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Latest revision as of 14:48, 16 September 2021
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Albinism Microchapters |
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Albinism causes On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Albinism is caused by genetic mutations that impair melanin synthesis. The number of melanocytes is preserved.
Causes
Common Causes
- Albinism is caused by genetic mutations that impair melanin synthesis [1]
- Genetic mutations that lead to different subtypes of albinism are mentioned in both classification and pathophysiology sections
- The number of melanocytes is preserved [2]
References
- ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.
- ↑ "Albinism - StatPearls - NCBI Bookshelf".