OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF

MedGen UID:: 320510
•Concept ID:: C1835054
•: Finding

OMIM®:

155555

Recent clinical studies

Etiology

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW
J Invest Dermatol 2010 Feb;130(2):520-8. Epub 2009 Aug 27 doi: 10.1038/jid.2009.258. PMID: 19710684 Free PMC Article

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS
Am J Hum Genet 2003 Sep;73(3):638-45. Epub 2003 Jul 22 doi: 10.1086/377569. PMID: 12876664 Free PMC Article

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Diagnosis

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW
J Invest Dermatol 2010 Feb;130(2):520-8. Epub 2009 Aug 27 doi: 10.1038/jid.2009.258. PMID: 19710684 Free PMC Article

See all (1)

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