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GENATLAS PHENOTYPE

last update : 14-03-2012

Symbol	MCTO
Location	20q12
Name	multicentric carpotarsal osteolysis
Corresponding gene	MAFB
Main clinical features	skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved, associated with chronic renal failure, mental retardation and minor facial anomalies
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

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