Figure 1.
Patients’ genetics and hematologic characteristics before treatment. (A-B) Family pedigrees: double line shows a consanguineous union; filled symbol, affected individuals; half-filled symbols, heterozygous unaffected carrier; open symbols, not affected. (A) Pedigree A with propositus A-II-1, A-II-2, and A-II-3. (B) Pedigree B with propositus B-II-1. (C) Molecular annotation of the ABCG5 variants reported here. (D-F) Sterol levels in plasma. (D) Sitosterol. (E) Campesterol. (F) Cholestanol. (G) Platelet count. (H) Mean platelet volume. (I) Thrombopoietin (TPO). Dotted lines show the normal plasma parameters.

Patients’ genetics and hematologic characteristics before treatment. (A-B) Family pedigrees: double line shows a consanguineous union; filled symbol, affected individuals; half-filled symbols, heterozygous unaffected carrier; open symbols, not affected. (A) Pedigree A with propositus A-II-1, A-II-2, and A-II-3. (B) Pedigree B with propositus B-II-1. (C) Molecular annotation of the ABCG5 variants reported here. (D-F) Sterol levels in plasma. (D) Sitosterol. (E) Campesterol. (F) Cholestanol. (G) Platelet count. (H) Mean platelet volume. (I) Thrombopoietin (TPO). Dotted lines show the normal plasma parameters.

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