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Albright hereditary osteodystrophy.
Pediatr Dermatol. 2011 Mar-Apr; 28(2):135-7.PD

Abstract

Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we present a 10-month-old Tunisian boy with a classical course of this rare disease.

Authors+Show Affiliations

Charité-University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany. karola.stieler@charite.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20738794

Citation

Stieler, Karola, et al. "Albright Hereditary Osteodystrophy." Pediatric Dermatology, vol. 28, no. 2, 2011, pp. 135-7.
Stieler K, Schnabel D, Atugoda S, et al. Albright hereditary osteodystrophy. Pediatr Dermatol. 2011;28(2):135-7.
Stieler, K., Schnabel, D., Atugoda, S., Sterry, W., & Blume-Peytavi, U. (2011). Albright hereditary osteodystrophy. Pediatric Dermatology, 28(2), 135-7. https://doi.org/10.1111/j.1525-1470.2010.01226.x
Stieler K, et al. Albright Hereditary Osteodystrophy. Pediatr Dermatol. 2011 Mar-Apr;28(2):135-7. PubMed PMID: 20738794.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Albright hereditary osteodystrophy. AU - Stieler,Karola, AU - Schnabel,Dirk, AU - Atugoda,Saman, AU - Sterry,Wolfram, AU - Blume-Peytavi,Ulrike, PY - 2010/8/27/entrez PY - 2010/8/27/pubmed PY - 2011/8/19/medline SP - 135 EP - 7 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 28 IS - 2 N2 - Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we present a 10-month-old Tunisian boy with a classical course of this rare disease. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/20738794/Albright_hereditary_osteodystrophy_ L2 - https://doi.org/10.1111/j.1525-1470.2010.01226.x DB - PRIME DP - Unbound Medicine ER -