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GENATLAS PHENOTYPE

last update : 29-06-2016

Symbol	HBDFH
Location	9p21.3
Name	hereditary bone dysplasia with malignant fibrous histiocytoma
Other name(s)	diaphyseal medullary stenosis with malignant fibrous histiocytoma
Corresponding gene	MTAP
Other symbol(s)	DMSMFH, BDMF
Main clinical features	with cortical growth abnormalities, pathologic fractures, progressive wasting and bowing of lower extremities, with a high risk of developing malignant fibrous histiocytoma (see TSG9H) diaphyseal medullary stenosis with malignant fibrous histiocytoma is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis may be considered a tumor predisposition syndrome
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malignancy

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