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Fig. 5. Family 53 with outflow and aortic arch anomalies. (A-E). Persistent truncus arteriosus and DORV. Neonatal pups showed PTA together with IAA (A) or DORV with a duplicated left carotid artery (double arrowheads in B). Histology (C) and 3D reconstruction using episcopic fluorescence image capture (D,E) of a heart similar to that in shown in A revealed a single outflow tract that gave rise to the aorta and the pulmonary arteries (pa) and coronary arteries (ca) (arrowheads in C; white arrows in E). A VSD connects the RV and LV. L, lung; T, thymus. (F-K). Abnormal pigmentation. A homozygous Sema3CL605P pup exhibited skin hypopigmentation (F,H,K), when compared with an age matched control pup (G,I,K). Shown is skin from head (F,G), trunk (H,I) and rump (J,K). Ectopic pigmentation is seen in the chest cavity (L-N), including the heart (arrow, L), lung (not shown), trachea (Tr, M) and great vessels (arrow in N). LC, left carotid artery.





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