Yemenite deaf-blind hypopigmentation syndrome
| Yemenite deaf-blind hypopigmentation syndrome | |
|---|---|
| Other names | Warburg-Thomsen syndrome[1] |
Yemenite deaf-blind hypopigmentation syndrome 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
- ABCD syndrome
- List of cutaneous conditions
References
- ^ a b Lurie, Iosif W. & Victor A. McKusick (17 March 1997). "Yemenite deaf-blind hypopigmentation syndrome". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 25 January 2014.
- ISBN 978-1-4160-2999-1.
- PMID 10441344.
- PMID 2280978.
- PMID 12668617.
- ISBN 978-3-540-33934-2. Retrieved 2 January 2011.
External links
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