ALLMedicine™ Albright's Hereditary Osteodystrophy Center
Research & Reviews 47 results
Rheumatology (Oxford, England); Maduro AI, Saraiva AP et. al.
May 14th, 2022 - Albright's Hereditary Osteodystrophy: an Entity to Recognize.|2022|Maduro AI,Saraiva AP,Pimenta Rodrigues O,Marques M,Sousa SB,|
American Journal of Medical Genetics. Part A; Shelkowitz E, Chan CM et. al.
Mar 30th, 2022 - The GNAS gene (OMIM#139320), located on chromosome 20q13.2, encodes for the alpha-subunit of the stimulatory signaling protein, Gsα protein. GNAS variants with inactivating properties are associated with Albright's hereditary osteodystrophy (AHO) ...
Pediatric Dermatology; Brokamp G, Mosser-Goldfarb J
Feb 27th, 2022 - Pseudopseudohypoparathyroidism is an imprinted GNAS spectrum disorder that induces the phenotype of Albright's hereditary osteodystrophy. This phenotype often involves the formation of calcinosis cutis: firm, painful cutaneous eruptions, which are...
Journal of Bone and Mineral Research : the Official Journ... Elli FM, Mattinzoli D et. al.
Dec 14th, 2021 - Skeletal disorders, including both isolated and syndromic brachydactyly type E, derive from genetic defects affecting the fine tuning of the network of pathways involved in skeletogenesis and growth-plate development. Alterations of different gene...
The New England Journal of Medicine; Mendes de Oliveira E, Keogh JM et. al.
Oct 7th, 2021 - GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's her...
Clinicaltrials.gov 1 results
Jul 6th, 2007 - Albright's Hereditary Osteodystrophy is a rare autosomal dominant disease characterized by a constellation of physical features including short stature, central obesity, round face, brachydactyly, subcutaneous calcifications and mental retardation...