Figure 1
From: Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
Clinical and genetic feature of the two patients. (A) Chest X-ray of Case 2 reveals butterfly vertebra. (B) Sequencing results for Case 1 and their family members. Sanger sequencing revealed that the variant c.974delC (p.Pro325Leufs*87) (red arrow) was paternally inherited. (C) Copy number variation (CNV) analysis derived from WES data for Case 2, illustrating a 5.04 Mb deletion (chr20:8731424-13773919, red arrow) spanning the region 20p12.3p12. The Morbid genes are highlighted in red font.
