Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5-Reference-Cited by-同舟云学术

Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5

Published:2021-10-05 Issue:1 Volume:188 Page:199-209
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Farhan Ahmed¹^ORCID,Yuan Frank¹,Partan Elizabeth²,Weiss Clifford R.¹^ORCID

Affiliation:

1. Division of Interventional Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences The Johns Hopkins University School of Medicine Baltimore Maryland USA

2. McKusick‐Nathans Institute of Genetic Medicine, Department of Genetic Medicine The Johns Hopkins University School of Medicine Baltimore Maryland USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62522

Reference44 articles.

1. A method and server for predicting damaging missense mutations

2. Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations

3. BMP9 is produced by hepatocytes and circulates mainly in an active mature form complexed to its prodomain

4. Novel mutations inENGandACVRL1identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

5. Identifying Mendelian disease genes with the Variant Effect Scoring Tool

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