hrp0097p1-325 | Growth and Syndromes | ESPE2023
Clinical and Genetic Analysis of Ten Short Stature Patients with ACAN Variants
Binbin Cai , Hong Chen , Ruimin Chen
Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...
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