Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification-Reference-Cited by-同舟云学术

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Published:2019-08-26 Issue:12 Volume:40 Page:2197-2220
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gilbert Melissa A.¹,Bauer Robert C.¹,Rajagopalan Ramakrishnan¹,Grochowski Christopher M.¹,Chao Grace¹,McEldrew Deborah¹,Nassur James A.¹,Rand Elizabeth B.²,Krock Bryan L.¹,Kamath Binita M.³,Krantz Ian D.⁴⁵,Piccoli David A.²,Loomes Kathleen M.²,Spinner Nancy B.¹^ORCID

Affiliation:

1. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

2. Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

3. Division of Gastroenterology, Hepatology and Nutrition, Department of PediatricsHospital for Sick Children and the University of Toronto Toronto Canada

4. Division of Human Genetics, Roberts Individualized Medical Genetics CenterChildren's Hospital of Philadelphia Philadelphia Pennsylvania

5. Department of PediatricsThe Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

Funder

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23879

Reference88 articles.

1. Genetic Diagnosis in an Indian Child with Alagille Syndrome