Articles with "novel gnas" as a keyword



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A Novel GNAS Mutation Causing Isolated Infantile Cushing’s Syndrome

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Published in 2019 at "Hormone Research in Paediatrics"

DOI: 10.1159/000501169

Abstract: Infantile Cushing’s syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait… read more here.

Keywords: infantile cushing; cushing syndrome; gnas mutation; novel gnas ... See more keywords