Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant-Reference-Cited by-同舟云学术

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant

Published:2018-10-04 Issue:12 Volume:176 Page:2819-2823
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Han Chen G.¹,O'Brien Kevin J.²,Coon Lea M.³,Majerus Julie A.³,Huryn Laryssa A.⁴,Haroutunian Sara G.¹,Moka Nagabhishek⁵,Introne Wendy J.²,Macnamara Ellen⁶,Gahl William A.¹²⁶,Malicdan May Christine V.¹⁶,Chen Dong³,Krishnan Koyamangalath⁵,Gochuico Bernadette R.¹^ORCID

Affiliation:

1. Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland

2. Office of the Clinical Director National Human Genome Research Institute, National Institutes of Health Bethesda Maryland

3. Division of Hematopathology Mayo Clinic Rochester Minnesota

4. Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health Bethesda Maryland

5. Division of Hematology‐Oncology, Department of Internal Medicine, Quillen College of Medicine East Tennessee State University Johnson City Tennessee

6. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health Bethesda Maryland

Funder

National Eye Institute

Office of the Director

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40514

Reference19 articles.