Albright's hereditary osteodystrophy.
Indian J Pediatr
;
2006 Feb; 73(2): 153-6
Artigo
em Inglês
| IMSEAR
| ID: sea-78317
ABSTRACT
Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Pseudo-Hipoparatireoidismo
/
Pseudopseudo-Hipoparatireoidismo
/
Feminino
/
Humanos
/
Criança
/
Subunidades alfa Gs de Proteínas de Ligação ao GTP
/
Displasia Fibrosa Poliostótica
/
Doenças Genéticas Inatas
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2006
Tipo de documento:
Artigo
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