Progressive osseous heteroplasia in a Chinese infant and a novel mutation in the GNAS Gene

Abstract

Progressive osseous heteroplasia(POH,OMIM 166350) is a rare inherited disease that begins with skin ossification and proceeds into the deeper connective tissues. Most cases of POH are caused by heterozygous inactivating mutations of GNAS gene. Herein, we report a new sporadic case of atypical POH and its underlying genetic basis.

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