Gene: [20^/CHED1] congenital hereditary corneal edema of Maumenee (autosomal dominant);
|
CAG |
The relationship between the autosomal dominant form and the autosomal recessive form, which has not been mapped (GEM:00.0/CHED2), is unknown and they could be due to different mutations in the same gene (Toma-1995)." |
|
REF |
PAT "Kirkness CM &: Brit J Ophthal, 71, 130-144, 1987 PAT "Maumenee AE: Am J Ophthal, 50, 1114-1124, 1960 PAT "Pearce WG &: Brit J Ophthal, 53, 577-591, 1969 LIN,LOC "Toma NMG &: Hum Mol Genet, 4, 2395-2398, 1995 |
|
CLA |
unknown, basic |
|
LOC |
20 p11.2-q11.2 |
|
MIM |
MIM: 121700 |
