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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 |
2007-6-18
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pubmed:abstractText |
The Ecuadorian GH receptor deficiency (GHRD)/Laron syndrome population is the only large cohort with a single GHR mutation (E180 splice), permitting identification of numerous carrier and noncarrier first-degree relatives, to ascertain effects of heterozygosity on GH-dependent IGF-I and IGFBP-3 concentrations and on growth.
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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 |
1096-6374
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
261-4
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pubmed:meshHeading |
pubmed-meshheading:17350302-Adolescent,
pubmed-meshheading:17350302-Adult,
pubmed-meshheading:17350302-Aged,
pubmed-meshheading:17350302-Aged, 80 and over,
pubmed-meshheading:17350302-Alternative Splicing,
pubmed-meshheading:17350302-Body Height,
pubmed-meshheading:17350302-Child,
pubmed-meshheading:17350302-Child, Preschool,
pubmed-meshheading:17350302-Dwarfism,
pubmed-meshheading:17350302-Ecuador,
pubmed-meshheading:17350302-Female,
pubmed-meshheading:17350302-Heterozygote,
pubmed-meshheading:17350302-Humans,
pubmed-meshheading:17350302-Infant,
pubmed-meshheading:17350302-Insulin-Like Growth Factor Binding Protein 3,
pubmed-meshheading:17350302-Insulin-Like Growth Factor I,
pubmed-meshheading:17350302-Laron Syndrome,
pubmed-meshheading:17350302-Male,
pubmed-meshheading:17350302-Middle Aged,
pubmed-meshheading:17350302-Mutation,
pubmed-meshheading:17350302-Pedigree,
pubmed-meshheading:17350302-Receptors, Somatotropin
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pubmed:year |
2007
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pubmed:articleTitle |
Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.
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pubmed:affiliation |
Institute for Endocrinology Metabolism and Reproduction (IEMYR), Quito, Ecuador.
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pubmed:publicationType |
Journal Article
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