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<i>NOTCH2</i> mutations in Alagille syndrome

2011216 citationsJournal Articlegreen Open Access

Authors

Binita M. Kamath · Hospital for Sick Children

Robert C. Bauer · University of Pennsylvania

Kathleen M. Loomes · University of Pennsylvania

Grace F. Chao · Children's Hospital of Philadelphia

Jennifer Gerfen · University of Pennsylvania

Anne Hutchinson · Children's Hospital of Philadelphia

Winita Hardikar

Abstract

This work confirms the importance of NOTCH2 as a second disease gene in ALGS and expands the repertoire of the NOTCH2 related disease phenotype.

Topics & Keywords

Pediatric Hepatobiliary Diseases and Treatments Genetic and Kidney Cyst Diseases Gallbladder and Bile Duct Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Medical Genetics

Volume 49, Issue 2, pp. 138-144

DOI: 10.1136/jmedgenet-2011-100544

Field-Weighted Citation Impact: 10.33

<i>NOTCH2</i> mutations in Alagille syndrome | Researchclopedia

· Royal Children's Hospital

Gideon M. Hirschfield · University of Toronto

Paloma Jara · Hospital Universitario La Paz

Ian D. Krantz · Children's Hospital of Philadelphia

Pablo Lapunzina · Hospital Universitario La Paz

Laura D. Leonard · University of Pennsylvania

Simon Ling · University of Toronto

Vicky L. Ng · Hospital for Sick Children

P. Le Hoang · Children's Hospital 1

David A. Piccoli · University of Pennsylvania

Nancy B. Spinner · Children's Hospital of Philadelphia