Genetic causes of short stature
Notes: Acid-labile subunit gene (IGFALS) defect ; Growth hormone gene 1 (GH1) defect with growth hormone neutralizing antibodies ; Growth hormone insensitivity syndrome (GHIS) ; Insulin-like growth factor 1 gene (IGF1) defect ; Laron type short stature ; Severe primary insulin-like growth factor-1 deficiency (SPIGFD) ; Signal transducer and activator of transcription 5B gene (STAT5b) defect ; Genetic syndrome with resistance to insulin-like growth factor-1 ; Insulin-like growth factor-1 receptor (IGF-1R) defect ; Post-insulin-like growth factor-1 receptor signaling defect ; Short stature due to ACAN gene variant ; Short stature due to aggrecan deficiency ; Short stature due to NPR-2 gene variant

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dr.kijakarn junda MD. first class hon. , FRCP(t)
Tags: E34.32

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