Ontology highlight
ABSTRACT:
SUBMITTER: Moynihan LM
PROVIDER: S-EPMC1377081 | biostudies-other | 1998 May
REPOSITORIES: biostudies-other
Moynihan L M LM Bundey S E SE Heath D D Jones E L EL McHale D P DP Mueller R F RF Markham A F AF Lench N J NJ
American journal of human genetics 19980501 5
We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected ...[more]