WS2B

From WikiMD's Wellnesspedia

Waardenburg syndrome, type 2B
Identifiers
SymbolWS2B
NCBI gene7488
HGNC12794
OMIM600193
Other data
LocusChr. 1 p21-1p13.3

WS2B is a putative gene associated with Waardenburg syndrome type 2. It has not yet been isolated from its locus of chromosome 1p21–1p13.3 since it was first reported in 1994.[1]

History[edit | edit source]

This locus was first linked to Waardenburg syndrome in 1994, when the study that first identified mutations in MITF in patients with Waardenburg syndrome type 2 also found that some patients did not have any mutations in this region.[1][2] A second 1994 study found a link to chromosome 1 in the locus 1p21–p13.3. This became known as type 2B of the condition, however it has not been documented since, and the gene responsible remains unknown.[1][3]

References[edit | edit source]

  1. 1.0 1.1 1.2 "OMIM Entry - % 600193 - WAARDENBURG SYNDROME, TYPE 2B; WS2B". www.omim.org. Retrieved 2019-12-23.

Wikimd.png
This article is a stub.

Help WikiMD grow by registering to expand it.
Editing is available only to registered and verified users.
About WikiMD: A comprehensive, free health & wellness encyclopedia.

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Prab R. Tumpati, MD