Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series

Bone

Volumn 56, Issue 2, 2013, Pages 276-280

  Elli, F M ^a   Barbieri, A M ^a   Bordogna, P ^a   Ferrari, P ^b   Bufo, R ^c   Ferrante, E ^a   Giardino, E ^a   Beck Peccoz, P ^a   Spada, A ^a   Mantovani, G ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c Ospedale G Tatarella   (Italy)

Author keywords

GNAS; Heterotopic ossification (HO); Osteoma cutis (OC); Progressive osseous heteroplasia (POH)

Indexed keywords

ASPARTIC ACID; GLYCINE; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; METHIONINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ETHNIC GROUP; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GNAS GENE; HETEROTOPIC OSSIFICATION; HUMAN; INFANT; ITALIAN; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OBESITY; PRESCHOOL CHILD; PROGRESSIVE OSSEOUS HETEROPLASIA; PROTEIN METHYLATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SPEECH DELAY;

GNAS; HETEROTOPIC OSSIFICATION (HO); OSTEOMA CUTIS (OC); PROGRESSIVE OSSEOUS HETEROPLASIA (POH);

ADOLESCENT; BONE DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; EPIGENESIS, GENETIC; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MUTATION; OSSIFICATION, HETEROTOPIC; SKIN DISEASES, GENETIC;

EID: 84880388444     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2013.06.015     Document Type: Article

References (24)

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