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Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report

Patient: Male, newborn Final Diagnosis: Alagille syndrome Symptoms: Cholestasis and/or gallbladder dysfunction Medication: — Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Unusual clinical course BACKGROUND: Alagille syndrome (ALGS) is a multisystem hereditary illn...

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Detalles Bibliográficos
Autores principales:	Uddin, Mohammed Shahab, Fulayyih, Saleh Al, Denaini, Fatin Fahad Al, Hatlani, Maher Mohammed Al
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	International Scientific Literature, Inc. 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552858/ https://www.ncbi.nlm.nih.gov/pubmed/36201396 http://dx.doi.org/10.12659/AJCR.935840

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