MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Table 1

Clinical features of the family with Tietz/Waardenburg syndrome.

Features	III-1	II-1	II-9	I-2
Age	27	49	38	Died
Gender	F	M	M	M
Skin	Albino skin	Albino skin	Unknown	Unknown
Hair	White hair	White hair	Gray hair	White hair
Eye	Blue-gray iris	Blue-gray iris	One eye with blue iris and one eye with brown iris	Unknown
Ear	Hearing loss	Hearing loss	Right side hearing loss	Unknown

F: female; M: male.