About 123 results

ALLMedicine™ Albright's Hereditary Osteodystrophy Center

Research & Reviews  47 results

Albright's hereditary osteodystrophy: an entity to recognize.
Rheumatology (Oxford, England); Maduro AI, Pinto Saraiva A et. al.

May 14th, 2022 - Albright's hereditary osteodystrophy: an entity to recognize.|2022|Maduro AI,Pinto Saraiva A,Pimenta Rodrigues O,Marques M,B Sousa S,|

A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.
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) ...

Intralesional sodium thiosulfate treatment of calcinosis cutis in pseudopseudohypoparat...
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...

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
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...

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
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...

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Clinicaltrials.gov  1 results

Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)

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...

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News  1 results

'Unbiased' Genetic Screening Turns Up Cause of Kids' Obesity

Oct 6th, 2021 - GNAS mutations in kids with severe obesity may go undetected, researchers suggested. In a study of 2,548 children with severe obesity in whom genetic causes of obesity were not suspected, a total of 22 were found to have heterozygous GNAS mutation...

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