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

Ссылки: