Fig. 1From: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf familiesPEPCK-C deficiency affected patients’ family pedigrees. (A) Family 1 with three affected patients carrying the splice site c.961 + 1G > A variant (B) Family 2 with two affected siblings carrying the missense c.574T > C variant (C) Family 3 with one affected patients and (D) Family 4 with one affected child carrying the missense PCK1 c.1268 C > T variantBack to article page