Infantile osteoma cutis as a presentation of a GNAS mutation

Pediatric Dermatology

Volumn 29, Issue 4, 2012, Pages 483-484

  Martin, John ^a   Tucker, Melissa ^b   Browning, John C ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^b TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALBRIGHT SYNDROME; CASE REPORT; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; OSSEOUS HETEROPLASIA; OSTEOMA; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVIEW; SKIN OSTEOMA;

DERMIS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT; MALE; OSSIFICATION, HETEROTOPIC; OSTEOMA; SKIN NEOPLASMS;

EID: 84863425827     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2011.01469.x     Document Type: Review

References (5)

1. Schimmel RJ, Pasmans SG, Xu M, et al., GNAS-associated disorders of cutaneous ossification: two different clinical presentations. Bone 2010; 46: 868-872.
2. Kaplan FS, Craver R, MacEwen GD, et al., Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow up of three previously reported cases. J Bone Joint Surg Am 1994; 76: 425-436. (Pubitemid 24138936)
3. Shore EM, Ahn J, Jan de Beur S, et al., Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 2002; 346: 99-106. (Pubitemid 34438900)
4. Lebrun M, Richard N, Abeguile G, et al., Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. J Clin Endocrinol Metab 2010; 95: 3028-3038.
5. Bastepe M, Juppner H,. GNAS locus and pseudohypoparathyroidism. Horm Res 2005; 63: 65-74. (Pubitemid 40591467)