06 October 2022>: Articles
Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
Unusual clinical course, Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Mohammed Shahab Uddin A* , Saleh Al Fulayyih B , Fatin Fahad Al Denaini B , Maher Mohammed Al Hatlani ADOI: 10.12659/AJCR.935840
Am J Case Rep 2022; 23:e935840
Figure 1. Plain X-ray of the skull revealed the absence of skull sutures causing craniosynostosis. at 4 weeks of age.