Gene: [16p133/CATM] microphthalmia-cataract;


COM

Yokoyama-1992 described a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2;16)(p22.3;p13.3) through 3 generations."

REF

ABR,LOC "Yokoyama Y &: Hum Genet, 90, 177-178, 1992

KEY

eye

CLA

unknown, basic

LOC

16 p13.3

MIM

MIM: 156850

Смотрите также:

  • Gene: [0Xp22/MLS] microphthalmia with linear skin defects;