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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-2-8
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pubmed:abstractText |
Most cases of goitrous congenital hypothyroidism (CH) from thyroid dyshormonogenesis 1) follow a recessive mode of inheritance and 2) are due to mutations in the thyroid peroxidase gene (TPO). We report the genetic mechanism underlying the apparently dominant inheritance of goitrous CH in a nonconsanguineous family of French Canadian origin.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0021-972X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
627-33
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:18029453-Amino Acid Sequence,
pubmed-meshheading:18029453-Base Sequence,
pubmed-meshheading:18029453-Congenital Hypothyroidism,
pubmed-meshheading:18029453-DNA,
pubmed-meshheading:18029453-Female,
pubmed-meshheading:18029453-Goiter,
pubmed-meshheading:18029453-Humans,
pubmed-meshheading:18029453-Infant, Newborn,
pubmed-meshheading:18029453-Iodide Peroxidase,
pubmed-meshheading:18029453-Male,
pubmed-meshheading:18029453-Models, Molecular,
pubmed-meshheading:18029453-Molecular Sequence Data,
pubmed-meshheading:18029453-Mutation,
pubmed-meshheading:18029453-Pedigree,
pubmed-meshheading:18029453-Polymerase Chain Reaction,
pubmed-meshheading:18029453-Sequence Alignment,
pubmed-meshheading:18029453-Static Electricity,
pubmed-meshheading:18029453-Surface Properties
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pubmed:year |
2008
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pubmed:articleTitle |
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
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pubmed:affiliation |
Endocrinology Service and Research Center, Sainte-Justine Hospital and Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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