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. 2016 Dec 22;87(1):42–50. doi: 10.1159/000452973

Fig. 1.

Fig. 1

Summary of specific diagnoses and SHOX gene alterations of patients in GeNeSIS with a diagnosis of SHOX deficiency. Assignments of genetic alterations are based on the available reported data and reflect the classification of individual patients by their clinician. a Included 1 patient with a gene alteration that was not specified. b Included SHOX deletion (n = 106 [51% of 207 with SHOX alterations]), SHOX + PAR1 deletion (n = 35 [17%]), SHOX partial deletion (n = 9 [4%]) and SHOX + PAR1 partial deletion (n = 3 [1%]). c Included SHOX deletion (n = 100 [46% of 218 with SHOX alterations]), SHOX + PAR1 deletion (n = 19 [9%]), PAR1 deletion (n = 1 [<1%]) and SHOX partial deletion (n = 4 [2%]). LWS, Leri-Weill syndrome; SHOX, short stature homeobox-containing gene.