Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

doi:10.1016/j.ghir.2007.01.016

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Article

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 2007

Guevara-Aguirre Jaime, Rosenbloom Arlan L, Guevara-Aguirre Marco, Yariz Kemal, Saavedra Jeanette, Baumbach Lisa, Shuster Jonathan

Abstract excerpt

CONTEXT & OBJECTIVE: 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. DESIGN: First-degree relatives (n=212) of GHRD patients had specimens...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Alternative Splicing
Body Height
Child
Child, Preschool
Dwarfism
Ecuador
Female
Heterozygote
Humans

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Insulin-Like Growth Factor Binding Protein 3

Insulin-Like Growth Factor I

Laron Syndrome

Male

Source

Open in PubMed

Identifiers

PMID: 17350302
DOI: 10.1016/j.ghir.2007.01.016

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