Journal
CLINICAL CASE REPORTS
Volume 6, Issue 10, Pages 1933-1940Publisher
WILEY
DOI: 10.1002/ccr3.1739
Keywords
Albright's hereditary osteodystrophy; GNAS mutation; inactivating PTH/PTHrP signaling disorders; pseudohypoparathyroidism; severe phenotype
Categories
Ask authors/readers for more resources
Key Clinical Message Germline loss-of-function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available