GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis

Journal of Bone and Mineral Research

Volumn 15, Issue 11, 2000, Pages 2063-2073

  Yeh, George L ^a   Mathur, Sameer ^a   Wivel, Ashley ^a   Li, Ming ^a   Gannon, Francis H ^b   Ulied, Angels ^c   Audi, Laura ^c   Olmsted, Elizabeth A ^a   Kaplan, Frederick S ^a   Shore, Eileen M ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^c HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

Author keywords

Cbfa1 RUNX2; GNAS1; Heterotopic ossification; Platelike osteoma cutis; Progressive osseous heteroplasia

Indexed keywords

ADENYLATE CYCLASE; GUANINE NUCLEOTIDE BINDING PROTEIN;

ALPHA CHAIN; ARTICLE; BASE PAIRING; CASE REPORT; CELL DIFFERENTIATION; CHILD; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROTOPIC OSSIFICATION; HUMAN; NUCLEOTIDE SEQUENCE; OSTEOMA; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; BONE AND BONES; CASE REPORT; CELL LINE; CHILD; EXONS; FEMALE; FIBROBLASTS; FIBROUS DYSPLASIA, POLYOSTOTIC; FOREHEAD; G-PROTEIN, STIMULATORY GS; GENE EXPRESSION REGULATION; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; ORGAN SPECIFICITY; OSSIFICATION, HETEROTOPIC; RNA, MESSENGER; SKIN; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0033792664     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.11.2063     Document Type: Article

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