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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Fig. 1

PEPCK-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 variant

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172