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hrp0089p2-p208 | GH & IGFs P2 | ESPE2018

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient?

Efthymiadou Alexandra , Papanastasiou Anastasios , Zarkadis Ioannis , Hwa Vivian , Chrysis Dionysios

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include atypical GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

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ESPE Abstracts

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient?

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