Cargando…
SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3
Pseudohypoparathyroidism 1B (PHP1B) or inactivating PTH/PTHrp Signaling Disorder type 3 (iPPSD3), according to the new classification, presents mainly with hypocalcemia and hyperphosphatemia due to renal resistance towards parathyroid hormone. In addition, patients display early onset obesity and im...
Autores principales: | Hanna, Patrick, Netchine, Irène, Le Stunff, Catherine, Linglart, Agnès |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552243/ http://dx.doi.org/10.1210/js.2019-SAT-039 |
Ejemplares similares
-
A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype
por: Gorbacheva, Anna, et al.
Publicado: (2023) -
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
por: Pereda, Arrate, et al.
Publicado: (2018) -
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3
por: Elli, F. M., et al.
Publicado: (2019) -
SAT-047 Disorders in Mice with Subclinical Hypothyroidism
por: Chen, Wenbin, et al.
Publicado: (2019) -
SAT026 Melanocortin Receptors In The Earliest Chordates?
por: Ji, Ren-Lei, et al.
Publicado: (2023)