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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 |
2009-5-19
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pubmed:abstractText |
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
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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 |
Feb
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pubmed:issn |
0334-018X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
187-9
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pubmed:meshHeading |
pubmed-meshheading:19449677-Chromosomes, Human, X,
pubmed-meshheading:19449677-DNA Mutational Analysis,
pubmed-meshheading:19449677-Diabetes Insipidus, Nephrogenic,
pubmed-meshheading:19449677-Female,
pubmed-meshheading:19449677-Genes, Recessive,
pubmed-meshheading:19449677-Heterozygote,
pubmed-meshheading:19449677-Humans,
pubmed-meshheading:19449677-Infant,
pubmed-meshheading:19449677-Male,
pubmed-meshheading:19449677-Mothers,
pubmed-meshheading:19449677-Pedigree,
pubmed-meshheading:19449677-Receptors, Vasopressin,
pubmed-meshheading:19449677-Scoliosis
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pubmed:year |
2009
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pubmed:articleTitle |
Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
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pubmed:affiliation |
Department ofPediatrics, Gulhane Military Academy ofMedicine, Etlik Ankara, Turkey. onursakallioglu@hotmail.com
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pubmed:publicationType |
Journal Article,
Case Reports
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