1.
Indian J Pediatr
;
2006 Feb; 73(2): 153-6
Artículo
en Inglés
| IMSEAR
| ID: sea-78317
RESUMEN
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.
Asunto(s)
Niño , Femenino , Displasia Fibrosa Poliostótica/sangre , Subunidades alfa de la Proteína de Unión al GTP Gs/sangre , Enfermedades Genéticas Congénitas , Humanos , Seudohipoparatiroidismo/etiología , Seudoseudohipoparatiroidismo/etiología
2.
Acta méd. colomb
;
5(2,supl): 253-60, jun. 1980.
Artículo
en Español
| LILACS
| ID: lil-70473