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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| Main Authors: | , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2010
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| 在线阅读: | 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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