Gene: [11q25/HJCD] histiocytosis with joint contractures and sensorineural deafness (Faisalabad);
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COM |
Using autozygosity mapping, a homozygous region of approximately 1 cM at 11q25 was identified in affected individuals. A maximum 2-point lod score of 3.42 (theta = 0.00) was obtained with marker D11S968 (Moynihan-1998)." |
|
FOG |
The single pedigree ( originating from Pakistan) described by Moynihan-1998 was consistent with autosomal recessive inheritance." |
|
REF |
PAT,LIN,FOG "Moynihan LM &: AJHG, 62, N5, 1123-1128, 1998 |
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KEY |
neu, bone |
|
CLA |
unknown, basic |
|
LOC |
11 q25 |
|
MIM |
MIM: 602782 |
