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]
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]