IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).

Aleksandra Janchevska,Marina Krstevska-Konstantinova, Heike Pfäffle,Marina Schlicke,Nevenka Laban,Velibor Tasic,Zoran Gucev,Kristina Mironska,Aleksandar Dimovski,Jürgen Kratzsch,Jürgen Klammt,Roland Pfäffle

Open access Macedonian journal of medical sciences（2018）

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摘要

gene alterations were present in 2 of 64 short SGA children. The patients did not have any dysmorphic features or developmental delay. It is remarkable that one of them had significantly decreased serum concentrations of IGF1. Growth response to GH treatment in one of the patients was favourable, while the second one discontinued the treatment, but with catch-up growth.

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关键词

IGF1 receptor (IGF1R),IGF1R gene,Multiplex Ligation-dependent Probe Amplification (MLPA),Small for gestational age (SGA),direct sequencing

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