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

Elmas Nazlı GonçZ A OzonS OguzS KabacamE Z TaskiranP O S KiperG E UtineA AlikasifogluN KandemirO K BodurogluM Alikasifoglu
Published in: Journal of endocrinological investigation (2020)
We found a deletion or variant in IGF1R in 14% of short children. Birth weight, head circumference, intelligence, dysmorphic features, IGF-1 levels and even height are not consistent among patients. Additionally, metabolic and gonadal complications may appear during adulthood, suggesting that patients should be followed into adulthood to monitor for these late complications.
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