Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.The objective of the study was to investigate the clinical features of heterozygous carriers of...

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Hlavní autoři: Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp, J. van Doorn, Jens Koenig, Lisbeth Gauguin, Wilma Oostdijk, Claudia Ruivenkamp, Monique Losekoot, John D. Wade, Pierre De Meyts, Marcel Karperien, C. Noordam, Jan M. Wit
Médium: Artigo
Jazyk:angličtina
Vydáno: 2010
On-line přístup:https://doi.org/10.1210/jc.2010-0511
https://academic.oup.com/jcem/article-pdf/95/11/E363/9092711/jcemE363.pdf
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https://doi.org/10.1210/jc.2010-0511
https://academic.oup.com/jcem/article-pdf/95/11/E363/9092711/jcemE363.pdf

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