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Albright's hereditary osteodystrophy.
Indian J Pediatr. 2006 Feb; 73(2):153-6.IJ

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.

Authors+Show Affiliations

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India. seemam@vsnl.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16514227

Citation

Kapoor, Seema, et al. "Albright's Hereditary Osteodystrophy." Indian Journal of Pediatrics, vol. 73, no. 2, 2006, pp. 153-6.
Kapoor S, Gogia S, Paul R, et al. Albright's hereditary osteodystrophy. Indian J Pediatr. 2006;73(2):153-6.
Kapoor, S., Gogia, S., Paul, R., & Banerjee, S. (2006). Albright's hereditary osteodystrophy. Indian Journal of Pediatrics, 73(2), 153-6.
Kapoor S, et al. Albright's Hereditary Osteodystrophy. Indian J Pediatr. 2006;73(2):153-6. PubMed PMID: 16514227.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Albright's hereditary osteodystrophy. AU - Kapoor,Seema, AU - Gogia,Siddhartha, AU - Paul,Ritu, AU - Banerjee,Sharmila, PY - 2006/3/4/pubmed PY - 2006/7/22/medline PY - 2006/3/4/entrez SP - 153 EP - 6 JF - Indian journal of pediatrics JO - Indian J Pediatr VL - 73 IS - 2 N2 - 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. SN - 0973-7693 UR - https://www.unboundmedicine.com/medline/citation/16514227/Albright's_hereditary_osteodystrophy_ L2 - http://www.diseaseinfosearch.org/result/300 DB - PRIME DP - Unbound Medicine ER -