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GENATLAS PHENOTYPE

last update : 14-04-2010

Symbol	PPHP
Location	20q13.32
Name	pseudopseudohypoparathyroidism, Albright osteodystrophy phenotype
Corresponding gene	GNAS
Main clinical features	normal hormonal responsiveness and low Gs alpha level
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Gene product

Name

Gs alpha

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		under-expression	maternally inherited activating mutation

Remark(s)