|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0020514,
umls-concept:C0021053,
umls-concept:C0024554,
umls-concept:C0026882,
umls-concept:C0037047,
umls-concept:C0039082,
umls-concept:C0205314,
umls-concept:C0237677,
umls-concept:C0332281,
umls-concept:C0678227,
umls-concept:C0679622,
umls-concept:C1335876
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|
pubmed:issue |
2
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|
pubmed:dateCreated |
2010-7-27
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|
pubmed:abstractText |
GH insensitivity (GHI) syndrome caused by STAT5B mutations was recently reported, and it is characterized by extreme short stature and immune dysfunction. Treatment with recombinant human IGF1 (rhIGF1) is approved for patients with GHI, but the growth response to this therapy in patients with STAT5B mutations has not been reported.
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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
|
|
pubmed:issn |
1479-683X
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|
pubmed:author |
|
|
pubmed:issnType |
Electronic
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pubmed:volume |
163
|
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
349-55
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pubmed:dateRevised |
2010-9-28
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pubmed:meshHeading |
pubmed-meshheading:20538865-Adult,
pubmed-meshheading:20538865-Child,
pubmed-meshheading:20538865-Child, Preschool,
pubmed-meshheading:20538865-Growth Disorders,
pubmed-meshheading:20538865-Humans,
pubmed-meshheading:20538865-Hyperprolactinemia,
pubmed-meshheading:20538865-Immune System Diseases,
pubmed-meshheading:20538865-Insulin-Like Growth Factor I,
pubmed-meshheading:20538865-Male,
pubmed-meshheading:20538865-Mutation,
pubmed-meshheading:20538865-Recombinant Proteins,
pubmed-meshheading:20538865-STAT5 Transcription Factor,
pubmed-meshheading:20538865-Siblings
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|
pubmed:year |
2010
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|
pubmed:articleTitle |
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.
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|
pubmed:affiliation |
Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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