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GENATLAS PHENOTYPE

last update : 4/09/2006

Symbol	POH
Location	20q13.32
Name	progressive osseous heteroplasia
Other name(s)	ectopic ossification, familial osteoma cutis
Corresponding gene	GNAS
Main clinical features	extensive dermal ossification during childhood
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	dermatology
Type	disease

Gene product

Name

Gs alpha

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	paternally inactivating mutation

Remark(s)