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. 2013 Jul 11;93(1):141–149. doi: 10.1016/j.ajhg.2013.05.019

Figure 1.

Figure 1

Appearance of Individuals with SHORT Syndrome, Test Results for Oral Glucose Tolerance, and Distribution of PIK3R1 Mutations

(A–H) Photos of subjects P1 (A–C), P2 (D), and P3 (E) and familial pedigree and photos of subject P5 (F–H). Subjects presented with a typical triangular facial shape, deep-set eyes, thin and hypoplastic alae nasi, a small chin, mild midfacial hypoplasia, and lipoatrophy. We obtained written consent to publish photographs of the subjects.

(I) Test results for oral glucose tolerance show hyperglycemia in subjects P3 (at 13.5 years of age) and P7 and increased serum insulin levels in all affected children (subjects P1, P2, and P3).

(J) Schematic representation of the three isoforms encoded by PIK3R1, their functional domains, and the alterations identified in individuals with SHORT syndrome.