|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2004-5-27
|
|
pubmed:abstractText |
Nonautoimmune hyperthyroidism (NAH), a rare autosomal dominantly inherited condition characterized by nonremitting thyrotoxicosis and the absence of features of autoimmune thyrotoxicosis, can result from activating germline mutations in the thyrotropin receptor (TSHR) gene. We report clinical and genetic features of a new family with NAH, and highlight that premature delivery and low birth weight are important characteristics of this condition.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0300-0664
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
60
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
711-8
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:15163335-Adult,
pubmed-meshheading:15163335-Child, Preschool,
pubmed-meshheading:15163335-DNA Mutational Analysis,
pubmed-meshheading:15163335-Female,
pubmed-meshheading:15163335-Germ-Line Mutation,
pubmed-meshheading:15163335-Heterozygote,
pubmed-meshheading:15163335-Humans,
pubmed-meshheading:15163335-Hyperthyroidism,
pubmed-meshheading:15163335-Infant,
pubmed-meshheading:15163335-Infant, Low Birth Weight,
pubmed-meshheading:15163335-Infant, Newborn,
pubmed-meshheading:15163335-Male,
pubmed-meshheading:15163335-Obstetric Labor, Premature,
pubmed-meshheading:15163335-Pedigree,
pubmed-meshheading:15163335-Pregnancy,
pubmed-meshheading:15163335-Receptors, Thyrotropin
|
|
pubmed:year |
2004
|
|
pubmed:articleTitle |
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
|
|
pubmed:affiliation |
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK. bvaidya@hgmp.mrc.ac.uk
|
|
pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
|
