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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2009-7-1
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pubmed:abstractText |
Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity-onset diabetes of the young. This article describes a family discovered to have a novel frame-shift mutation of the HNF4A gene in the setting of early-onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed.
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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 |
1479-828X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
328-30
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pubmed:dateRevised |
2009-11-11
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pubmed:meshHeading |
pubmed-meshheading:19566570-Diabetes Mellitus, Type 2,
pubmed-meshheading:19566570-Female,
pubmed-meshheading:19566570-Fetal Macrosomia,
pubmed-meshheading:19566570-Frameshift Mutation,
pubmed-meshheading:19566570-Hepatocyte Nuclear Factor 4,
pubmed-meshheading:19566570-Heterozygote,
pubmed-meshheading:19566570-Humans,
pubmed-meshheading:19566570-Infant, Newborn,
pubmed-meshheading:19566570-Infant, Premature,
pubmed-meshheading:19566570-Male,
pubmed-meshheading:19566570-Pedigree,
pubmed-meshheading:19566570-Persistent Hyperinsulinemia Hypoglycemia of Infancy,
pubmed-meshheading:19566570-Pregnancy,
pubmed-meshheading:19566570-Pregnancy in Diabetics
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pubmed:year |
2009
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pubmed:articleTitle |
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.
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pubmed:publicationType |
Letter,
Case Reports
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