Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1788-1796

  Adegbite, N S ^a   Xu, M ^a   Kaplan, F S ^a   Shore, E M ^a   Pignolo, R J ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Albright hereditary osteodystrophy; GNAS; Heterotopic ossification; Osteoma cutis; Progressive osseous heteroplasia (POH); Pseudohypoparathyroidism

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC IMAGING; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE; GENE INACTIVATION; GENE MUTATION; GNAS GENE; HETEROTOPIC OSSIFICATION; HORMONE RESISTANCE; HUMAN; IMAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; ONSET AGE; OSTEOMA; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE OSSEOUS HETEROPLASIA; PSEUDOHYPOPARATHYROIDISM; SYNDROME;

ADOLESCENT; ADULT; AGE OF ONSET; BONE NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; OSSIFICATION, HETEROTOPIC; OSTEOMA; PEDIGREE; PHENOTYPE; PSEUDOHYPOPARATHYROIDISM; SKIN; SKIN NEOPLASMS; SUBCUTANEOUS TISSUE; SYNDROME;

EID: 47349087316     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32346     Document Type: Article

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