2022
DOI: 10.1186/s43042-022-00241-9
|View full text |Cite
|
Sign up to set email alerts
|

Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene

Abstract: Background Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder that affects the liver, heart, eyes, vertebrae, and kidneys and is associated with characteristic facies. This work aimed to study the spectrum of the clinical features of ALGS in an Egyptian cohort of patients in conjunction with partial sequencing of the JAG1 gene. Methods This study included 17 pediatric ALGS patients diagnosed on clinical grounds: facial feat… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

0
0
0

Year Published

2023
2023
2023
2023

Publication Types

Select...
1

Relationship

0
1

Authors

Journals

citations
Cited by 1 publication
references
References 32 publications
(40 reference statements)
0
0
0
Order By: Relevance