Gene: [09^/AMDM] acromesomelic chondrodysplasia, Maroteaux type;
|
SUM |
[1] Acromesomelic dysplasias are skeletal disorders that
disproportionately
affect the middle and distal segments of the appendicular skeleton,
predominantly shortening the middle segments (forearms and forelegs) and
distal segments (hands and feet).
[2] The mapping of the AMDM locus to Chr 9 (a peak LOD score of 5.1 at recombination fraction 0) indicates that AMDM is genetically distinct from the two other mapped acromesomelic dysplasias, Hunter-Thompson type and Grebe type, which are caused by mutations in (GEM:20q112/CDMP1) (Kant-1998)." |
|
REL |
GEM:00.0/CDMP2. |
|
REF |
LOC,LIN,PAT "Kant SG &: AJHG, 63, 155-162, 1998 PAT,CAG "Langer LO &: Hum Genet, 81, 323-328, 1989 PAT,LIN "Minty IL, Hall CM: Brit J Radiol, 66, 1061-1064, 1993 |
|
KEY |
devd, bone, ont |
|
CLA |
unknown, basic |
|
LOC |
09 p13-q12 |
|
MIM |
MIM: 602875 |
