A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

Walenkamp, M J E; van der Kamp, H J; Pereira, A M; Kant, S G; van Duyvenvoorde, H A; Kruithof, M F; Breuning, M H; Romijn, J A; Karperien, M; Wit, J M

Walenkamp, M J E; van der Kamp, H J; Pereira, A M; Kant, S G; van Duyvenvoorde, H A; Kruithof, M F; Breuning, M H; Romijn, J A; Karperien, M; Wit, J M.

Affiliation

Walenkamp MJ; Department of Pediatrics J6-S, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands. m.j.e.walenkamp@lumc.nl

J Clin Endocrinol Metab ; 91(8): 3062-70, 2006 Aug.

Article in En | MEDLINE | ID: mdl-16757531

Subject(s)

Fetal Growth Retardation/genetics; Growth Disorders/genetics; Mutation, Missense/genetics; Receptor, IGF Type 1/genetics; Adult; Base Sequence; Body Height; Bone Density; DNA Mutational Analysis; DNA, Complementary/chemistry; Failure to Thrive/genetics; Female; Fibroblasts/metabolism; Glutamic Acid; Heterozygote; Humans; Infant; Insulin-Like Growth Factor I/analysis; Insulin-Like Growth Factor I/metabolism; Insulin-Like Growth Factor I/pharmacology; Lysine; Microcephaly/genetics; Phosphorylation; Polymerase Chain Reaction; Receptor, IGF Type 1/physiology; Sequence Analysis, DNA; Signal Transduction/drug effects

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Database: MEDLINE Main subject: Receptor, IGF Type 1 / Mutation, Missense / Fetal Growth Retardation / Growth Disorders Language: En Journal: J Clin Endocrinol Metab Year: 2006 Type: Article Affiliation country: Netherlands

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