临床医学名词词典

名词信息

中文名: 眼皮肤白化病Ⅰ型

英文名: oculocutaneous albinism type Ⅰ

中文又称:

中文曾称:

名词来源:

所属专业: 皮肤科

所属类别: 疾病诊断名词

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Pubmed相关的文献

oculocutaneous albinism type Ⅰ 相关文献:

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43.

PMID:17980020

Oculocutaneous Albinism Type 4.

Hayashi M, Suzuki T.

2005 Nov 17 [updated 2017 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

PMID:20301683

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM, Spritz RA.

J Invest Dermatol. 2008 Oct;128(10):2442-50. doi: 10.1038/jid.2008.109. Epub 2008 May 8.

PMID:18463683

Albinism.

Federico JR, Krishnamurthy K.

2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.

PMID:30085560

Oculocutaneous Albinism Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Lewis RA.

2000 Jan 19 [updated 2013 May 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

PMID:20301345

Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Lewis RA.

2003 Jul 17 [updated 2012 Aug 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.

PMID:20301410

Oculocutaneous albinism type 1: the last 100 years.

Oetting WS, Fryer JP, Shriram S, King RA.

Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749.2003.00045.x.

PMID:12753405

Clinical and mutational characteristics of oculocutaneous albinism type 7.

Kruijt CC, de Wit GC, van Minderhout HM, Schalij-Delfos NE, van Genderen MM.

Sci Rep. 2024 Mar 30;14(1):7572. doi: 10.1038/s41598-024-57969-0.

PMID:38555393

[Oculocutaneous and ocular albinism].

Kubasch AS, Meurer M.

Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x.

PMID:29018889

A new type of oculocutaneous albinism with a novel OCA2 mutation.

Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK.

Yeungnam Univ J Med. 2021 Apr;38(2):160-164. doi: 10.12701/yujm.2020.00339. Epub 2020 Aug 3.

PMID:32741191