Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review
J Ma, W Mo, J Sun, Y Li, T Han, H Mao - BMC Musculoskeletal Disorders, 2023 - Springer
Background Progressive osseous heteroplasia (POH) is a rare genetic condition that causes
progressive ossification. This usually results from an inactivating mutation of the paternal …
progressive ossification. This usually results from an inactivating mutation of the paternal …
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with …
T Seven Menevse, Y Iwasaki, Z Yavas Abali… - Hormone Research in …, 2024 - karger.com
Abstract Introduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-
organ resistance to multiple hormones and Albright's hereditary osteodystrophy (AHO) …
organ resistance to multiple hormones and Albright's hereditary osteodystrophy (AHO) …
Case Report: Everolimus reduced bone turnover markers but showed no clinical benefit in a patient with severe progressive osseous heteroplasia
M Cebey-López, MJ Currás-Tuala… - Frontiers in …, 2022 - frontiersin.org
Background Progressive osseous heteroplasia (POH) is an ultrarare genetic disorder
characterized by an inactivating mutation in the GNAS gene that causes heterotopic …
characterized by an inactivating mutation in the GNAS gene that causes heterotopic …
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with …
TSMYI Zehra, Y Abalia, BGTDH Ömer, DO Bugdaycid… - 2023 - karger.com
Abstract Introduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-
organ resistance to multiple hormones and AlbrightLs hereditary osteodystrophy (AHO) …
organ resistance to multiple hormones and AlbrightLs hereditary osteodystrophy (AHO) …
Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation
MC Caussade, C Downey, D Kramer… - Pediatric …, 2023 - Wiley Online Library
We report the case of a 10‐month‐old girl who presented with failure to thrive and multiple
small atrophic violaceous plaques, with no other findings on her physical examination. The …
small atrophic violaceous plaques, with no other findings on her physical examination. The …