Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features-Reference-Cited by-同舟云学术

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Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features

Published:2023-02-02 Issue:2 Volume:32 Page:80-83
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Awwad Johnny¹,Yammine Tony²,Hamdar Layal¹,Souaid Mirna²,Farra Chantal²³

Affiliation:

1. ObGyn Department, Fertility Unit, American University of Beirut Medical Center

2. Genetics Department, Medical Genetics Unit, Saint Joseph University, Beirut

3. Medical Genetics Department, Hotel-Dieu de France University Hospital, Beirut, Lebanon

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Alagille syndrome: a case report highlighting dysmorphic facies, chronic illness, and depression.;Bresnahan;Case Rep Psychiatry,2016

2. Targeted sequencing and RNA Assay reveal a noncanonical JAG1 splicing variant causing alagille syndrome.;Chen;Front Genet,2020

3. Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.;El-Rassy;Am J Med Genet A,2008

4. Jagged1 (JAG1): structure, expression, and disease associations.;Grochowski;Gene,2016

5. Heritable disorders of the bile ducts.;Kamath;Gastroenterol Clin North Am,2003

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