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Characteristic Frequency N 10 Mean age, years SD 31.8 8.4 Sex, no (%) Male 2 (20%) Female 8 (80%) Race, no (%) White 5 (50%) Black 2 (20%) Latino 2 (10%) Asian 1 (10%) BMI (mean, SD) 24.3 3.8 Baseline global facial lesion 20.45 10.44 Area most predominately affected Cheek 6 (60%) Forehead 2 (20%) Chin 2 (20%) 8 lesion count (11.18 6.38, p = 0.02) ( Figure 1(a) )

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics., Undiagnosed Diseases Network., Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B, "Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes", American journal of human genetics 104 (3): 422-438 (2019)

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Cell accumulation in the junctional region of denervated muscle