Article
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
The New England journal of medicine - 10 Jan 2002
Shore Eileen M, Ahn Jaimo, Jan de Beur Suzanne, Li Ming, Xu Meiqi, Gardner R J McKinlay, Zasloff Michael A, Whyte Michael P, Levine Michael A, Kaplan Frederick S
Abstract excerpt
BACKGROUND: Progressive osseous heteroplasia (POH), an autosomal dominant disorder, is characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. Occasional reports of mild heterotopic ossification in Albright's hereditary osteodystrophy (AHO) and a recent report of two patients with AHO who had...
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