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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2007-11-5
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pubmed:abstractText |
McCune-Albright syndrome (MAS) is characterized by a triad of gonadotropin-independent precocious puberty, café au lait skin pigmentation and fibrous dysplasia of bone. MAS is due to activating mutations of GNAS, the gene encoding Gsalpha. Interest exists in the use of GNAS mutation analysis to make a definitive diagnosis when the phenotype is not diagnostic, i.e. in partial forms of MAS. The utility of using peripheral blood for mutation analysis in this setting has not been thoroughly evaluated.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1565-4753
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
4 Suppl 4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
395-400
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17982386-Cafe-au-Lait Spots,
pubmed-meshheading:17982386-Child,
pubmed-meshheading:17982386-Child, Preschool,
pubmed-meshheading:17982386-Female,
pubmed-meshheading:17982386-Fibrous Dysplasia, Polyostotic,
pubmed-meshheading:17982386-Fibrous Dysplasia of Bone,
pubmed-meshheading:17982386-GTP-Binding Protein alpha Subunits, Gs,
pubmed-meshheading:17982386-Genetic Testing,
pubmed-meshheading:17982386-Humans,
pubmed-meshheading:17982386-Infant,
pubmed-meshheading:17982386-Infant, Newborn,
pubmed-meshheading:17982386-Leukocytes,
pubmed-meshheading:17982386-Phenotype,
pubmed-meshheading:17982386-Polymerase Chain Reaction,
pubmed-meshheading:17982386-Puberty, Precocious,
pubmed-meshheading:17982386-Severity of Illness Index
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pubmed:year |
2007
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pubmed:articleTitle |
GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty.
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pubmed:affiliation |
Department of Pediatrics, Division of Endocrinology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh PA 15213-2524, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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