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Alagille syndrome: clinical perspectives

Overview of attention for article published in The Application of Clinical Genetics, June 2016
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Title
Alagille syndrome: clinical perspectives
Published in
The Application of Clinical Genetics, June 2016
DOI 10.2147/tacg.s86420
Pubmed ID
Authors

David Chitayat, Binita Kamath, Maha Saleh

Abstract

Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 70 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 70 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 15 21%
Other 9 13%
Student > Doctoral Student 8 11%
Researcher 7 10%
Student > Master 6 9%
Other 13 19%
Unknown 12 17%
Readers by discipline Count As %
Medicine and Dentistry 35 50%
Biochemistry, Genetics and Molecular Biology 8 11%
Agricultural and Biological Sciences 4 6%
Nursing and Health Professions 2 3%
Mathematics 1 1%
Other 3 4%
Unknown 17 24%