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Article

Genetic IGF1R defects: new cases expand the spectrum of clinical features.

Journal of endocrinological investigation - 1 Dec 2020

Gonc E N, Ozon Z A, Oguz S, Kabacam S, Taskiran E Z, Kiper P O S, Utine G E, Alikasifoglu A, Kandemir N, Boduroglu O K, Alikasifoglu M

Abstract excerpt

PURPOSE: We aimed to identify the phenotypic variability of IGF1R defects in a cohort of short children with normal GH secretion gathered through the last decade. PATIENTS AND METHODS: Fifty children (25 girls) with short stature and a basal/stimulated growth hormone (GH) over 10 ng/ml having either a low birth weight or microcephaly were enrolled. MLPA and then Sanger sequence analysis were performed to detect...

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PMID: 32356191
DOI: 10.1007/s40618-020-01264-y

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