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Molecular and Cellular Pediatrics
Fig. 2 | Molecular and Cellular Pediatrics

Fig. 2

From: A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene

Fig. 2

A, B Illustration of individual BMI z scores in A children and B adults depending on LEP genotype (wt/wt vs. wt/- vs. -/-). A Children: LEP wt/wt (n = 2): mean: 0.5 (range 0.4–0.6); LEP wt/- (n = 8): mean − 0.1 (range − 2.4–1.3); LEP-/- (n = 25): mean 5.5 (range 2.7 − 12.5); B Adults: LEP wt/wt (n = 4): mean 0.3 (range − 1.0–1.0); LEP wt/- (n = 64): mean 1.0 (range − 0.9–4.2); LEP-/- (n = 13): mean 4.8 (range 4.1–5.2); C BMI z scores in association with LEP variant (green circle: wt/wt subject; blue square: wt/- subject; red triangle: -/- subject; yellow line: BMI z score = 1) (subjects reported in different studies, but showing the same variant are grouped together. It is not distinguished between children and adults. Only variants reported to be carried by wt/- are shown. However, not always a BMI z score for the wt/- carrier could be calculated; *p < 0.05)

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