GNAS-associated disorders of cutaneous ossification: Two different clinical presentations

Bone

Volumn 46, Issue 3, 2010, Pages 868-872

  Schimmel, R J ^a   Pasmans, S G M A ^a   Xu, M ^b   Stadhouders Keet, S A E ^c   Shore, E M ^b   Kaplan, F S ^b   Wulffraat, N M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c REINIER DE GRAAF HOSPITAL   (Netherlands)

Author keywords

Albright hereditary osteodystrophy (AHO); Fibrodysplasia ossificans progressiva (FOP); GNAS; Heterotopic ossification; Progressive osseous heteroplasia (POH)

Indexed keywords

ADENYLATE CYCLASE; PROTEIN GNAS; UNCLASSIFIED DRUG; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; CONTRACTURE; DISEASE SEVERITY; EARLY DIAGNOSIS; FEMALE; FUNCTIONAL DISEASE; GENE INACTIVATION; GENE MUTATION; GENETIC COUNSELING; GROWTH RETARDATION; HETEROTOPIC OSSIFICATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; SKIN DISEASE; ADOLESCENT; COMPARATIVE STUDY; GENE SILENCING; GENETICS; MUTATION; OSSIFICATION, HETEROTOPIC; PATHOLOGY; PATHOPHYSIOLOGY; SKIN;

ADOLESCENT; CHILD; FEMALE; GENE SILENCING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MUTATION; OSSIFICATION, HETEROTOPIC; SKIN;

EID: 77649188719     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2009.11.001     Document Type: Article

References (13)

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