Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?

Lukas Plachy,Shenali Anne Amaratunga,Petra Dusatkova,Klara Maratova,Vit Neuman,Lenka Petruzelkova,Dana Zemkova,Barbora Obermannova,Marta Snajderova,Stanislava Kolouskova,Zdenek Sumnik,Jan Lebl,Stepanka Pruhova

Frontiers in endocrinology（2022）

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摘要

In children with vertically transmitted short stature, genetic results frequently did not correspond with the clinical diagnosis of GH deficiency. These results underline the doubtful reliability of methods standardly used to diagnose GH deficiency.

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关键词

genetics,growth hormone,growth hormone deficiency,next-generation sequencing,short stature

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