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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2003-6-3
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pubmed:abstractText |
Mutations in the gene for the POU domain transcription factor POU1F1 (human Pit-1) have been reported in patients with GH, TSH and PRL deficiencies. PROP1 (Prophet of Pit-1) gene mutations also cause gonadotrophin deficiencies and in some cases partial ACTH deficiency. This study analyses the POU1F1 and PROP1 genes in a cohort of Australian children with combined pituitary hormone deficiency (CPHD) and correlates results with patient phenotype.
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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 |
Jun
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pubmed:issn |
0300-0664
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
58
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
785-94
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12780757-Adolescent,
pubmed-meshheading:12780757-Adult,
pubmed-meshheading:12780757-Australia,
pubmed-meshheading:12780757-Child,
pubmed-meshheading:12780757-Child, Preschool,
pubmed-meshheading:12780757-Cohort Studies,
pubmed-meshheading:12780757-DNA-Binding Proteins,
pubmed-meshheading:12780757-Female,
pubmed-meshheading:12780757-Gene Frequency,
pubmed-meshheading:12780757-Growth Disorders,
pubmed-meshheading:12780757-Growth Hormone,
pubmed-meshheading:12780757-Humans,
pubmed-meshheading:12780757-Infant,
pubmed-meshheading:12780757-Infant, Newborn,
pubmed-meshheading:12780757-Male,
pubmed-meshheading:12780757-Mutation,
pubmed-meshheading:12780757-Phenotype,
pubmed-meshheading:12780757-Pituitary Hormones,
pubmed-meshheading:12780757-Thyrotropin,
pubmed-meshheading:12780757-Transcription Factor Pit-1,
pubmed-meshheading:12780757-Transcription Factors
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pubmed:year |
2003
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pubmed:articleTitle |
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
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pubmed:affiliation |
Department of Paediatric Endocrinology, Mater Children's Hospital and University of Queensland, South Brisbane, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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