Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome

There are few reports of final height data in GH-treated NS children. [...]there is a lack of evidence that NS patients with the PTPN11 mutations have a shorter final adult height. In other words, because the FGU group may include multiple genetic characteristics, its use as a control group is not s...

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Bibliographic Details
Published in:Clinical and experimental pediatrics 2019, 62(11), , pp.412-413
Main Author: Shin, Young-Lim
Format: Article
Language:English
Subjects:
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Endocrine therapy
Genes
Growth hormones
Kinases
Mutation
Phosphatase
Physical growth
Proteins
Puberty
Signal transduction
소아과학
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Summary:There are few reports of final height data in GH-treated NS children. [...]there is a lack of evidence that NS patients with the PTPN11 mutations have a shorter final adult height. In other words, because the FGU group may include multiple genetic characteristics, its use as a control group is not suitable. [...]affected signaling proteins of the RAS-MAPK pathway other than the cytosolic protein tyrosine phosphatase encoded by PTPN11 are not completely understood to be directly implicated in the GH signaling pathway. For these reasons, bias may be unavoidable in the analysis of the GH response in the FGU group. [...]GH responses in very few patients with each gene mutation may not enable a thorough analysis.
ISSN:1738-1061
2092-7258
2713-4148
DOI:10.3345/kjp.2019.00220