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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3-4
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pubmed:dateCreated |
2002-2-15
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pubmed:abstractText |
We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene.
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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:issn |
0301-0163
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2002 S. Karger AG, Basel
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pubmed:issnType |
Print
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
81-6
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:11847467-Base Sequence,
pubmed-meshheading:11847467-Congenital Hypothyroidism,
pubmed-meshheading:11847467-DNA-Binding Proteins,
pubmed-meshheading:11847467-Genes, Recessive,
pubmed-meshheading:11847467-Humans,
pubmed-meshheading:11847467-Hypothyroidism,
pubmed-meshheading:11847467-Infant,
pubmed-meshheading:11847467-Male,
pubmed-meshheading:11847467-Mutation,
pubmed-meshheading:11847467-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11847467-Transcription Factor Pit-1,
pubmed-meshheading:11847467-Transcription Factors
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pubmed:year |
2001
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pubmed:articleTitle |
A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus.
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pubmed:affiliation |
Kinderklinik, Universitätsklinikum der RWTH Aachen, Deutschland. oblankenstein@post.klinikum.rwth-aachen.de
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pubmed:publicationType |
Journal Article,
Case Reports
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