Yemenite deaf-blind hypopigmentation syndrome
From Infogalactic: the planetary knowledge core
Yemenite deaf-blind hypopigmentation syndrome | |
---|---|
Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 601706 |
Patient UK | Yemenite deaf-blind hypopigmentation syndrome |
The genetic disorder Yemenite deaf-blind hypopigmentation syndrome, also known as Warburg-Thomsen syndrome,[1] is a condition caused by a mutation on the SRY-related HMG-box gene 10[2] (not SOX10).[3]
It was characterized in 1990,[4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation."[1] Some sources affirm SOX10 involvement.[5][6]
See also
References
- ↑ 1.0 1.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
<templatestyles src="Asbox/styles.css"></templatestyles>