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Fig. 1 | Diagnostic Pathology

Fig. 1

From: Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

Fig. 1

Family Pedigree. The proband (II-A) and abortus (II-B) have multiple congenital anomalies including severe pancreatic agenesis/hypoplasia, while one sibling (II-D), also heterozygous for the same mutation, has isolated congenital cardiac anomalies including a PDA, left pulmonary artery stenosis, moderate atrial septal defect. The father and remaining sibling are negative for the mutation. The genotypes are provided below each symbol, N denotes the wildtype allele

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