Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation

Context: Mouse knockout models have clearly demonstrated the critical importance of IGF-I and IGF receptor type 1 (IGF-IR) for embryonic growth as well as postnatal growth. Objective: We hypothesized that mutations of IGF-IR gene might predispose to short stature in children born with intrauterine g...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2005-08, Vol.90 (8), p.4679-4687
Hauptverfasser:	Kawashima, Yuki, Kanzaki, Susumu, Yang, Fan, Kinoshita, Tomoe, Hanaki, Keiichi, Nagaishi, Jun-ichi, Ohtsuka, Yoshihiko, Hisatome, Ichirou, Ninomoya, Haruaki, Nanba, Eiji, Fukushima, Toshiaki, Takahashi, Shin-Ichiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Body Height - genetics Child Child, Preschool DNA - biosynthesis Endocrinopathies Female Fetal Growth Retardation - genetics Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Heterozygote Humans Insulin-Like Growth Factor I - metabolism Male Medical sciences Mutation, Missense Pedigree Phosphorylation Receptor, IGF Type 1 - genetics Receptor, IGF Type 1 - metabolism Vertebrates: endocrinology
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Beschreibung
Zusammenfassung:	Context: Mouse knockout models have clearly demonstrated the critical importance of IGF-I and IGF receptor type 1 (IGF-IR) for embryonic growth as well as postnatal growth. Objective: We hypothesized that mutations of IGF-IR gene might predispose to short stature in children born with intrauterine growth retardation (IUGR). Patients: Twenty-four children with unexplained IUGR (birth weight < −1.5 sd) and short stature (
ISSN:	0021-972X 1945-7197
DOI:	10.1210/jc.2004-1947