Gene: [0X^/CDPX2] chondrodysplasia punctata 2 (X-linked dominant; Conradi-Hunermann syndrome; Happle syndrome);
|
COM |
According to preliminary data, a gene for a dominant form may be located in Xq28." |
|
REF |
PAT "Bruch D &: J Am Acad Derm, 33, 356-360, 1995 PAT "Happle R: Am J Med Genet, 57, 493-493, 1995 LOC "Herman GE &: Genomics, 7, 307-312, 1990 PAT "Sutphen R &: Am J Med Genet, 57, 489-492, 1995 LOC "Traupe H &: Genomics, 13, 481-483, 1992a LOC "Traupe H &: Hum Genet, 89, 659-665, 1992b |
|
KEY |
bone, derm, eye |
|
CLA |
unknown, basic |
|
LOC |
0X |
|
MIM |
MIM: 302960 |
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