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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 A

DOI: 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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923