Article
Diagnostic yield of genetic testing in children with short stature: a systematic review.
European journal of endocrinology - 4 Feb 2026
Scalco Renata C, Schoones Jan W, Galetaki Despoina, Santillan-Vasconez Ana M, Kim Gabriela J, Cellin Laurana P, Babinski Melanie, Rezende Raissa C, Nilsson Ola, Cianfarani Stefano, Wit Jan M, Dauber Andrew, Dekkers Olaf M, Jorge Alexander A L
Abstract excerpt
OBJECTIVE: To synthesize current evidence on genetic testing yield in children with short stature and to identify phenotypic and methodological factors influencing outcomes. The review served as a basis for the development of a consensus guideline on genetic evaluation of short stature. DESIGN: Systematic review. METHODS: Diagnostic yields were calculated by testing modality and clinical characteristics of study...
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