• Source: Yemenite deaf-blind hypopigmentation syndrome

Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10).
It was characterized in 1990, 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." Some sources affirm SOX10 involvement.




See also


ABCD syndrome
List of cutaneous conditions




References






External links

Kata Kunci Pencarian:

• Yemenite deaf-blind hypopigmentation syndrome
• List of syndromes
• Albinism in humans
• List of diseases (Y)
• Pitt–Hopkins syndrome
• Genetic studies on Arabs
• Campomelic dysplasia
• List of skin conditions
• SOX10