Article
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
American journal of medical genetics. Part A - 1 Oct 2025
Stone Brandon S, Ramadesikan Swetha, McGinley Regan, Hickey Scott E, Dublin-Ryan Leeran B, Estes Steven I, Elliott Victoria A, Karabasz Benjamin, Hunter Jesse M, Chaudhari Bimal P, Wilson Richard K, Koboldt Daniel C
Abstract excerpt
Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune-Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is germline or somatic in nature. The GNAS locus is imprinted, which also...
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