A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome

Hermansky–Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism and variable pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The diagnosis relies on clinical findings, platelet transmission electron microscopy studies showing absent dense granules, or t...

Descripción completa

Detalles Bibliográficos
Autores principales: Lansdon, Lisa A., Chen, Dong, Rush, Eric T., Engleman, Kendra, Zhang, Lei, Saunders, Carol J., Oroszi, Gabor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559624/
https://www.ncbi.nlm.nih.gov/pubmed/34362826
http://dx.doi.org/10.1101/mcs.a006110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559624/
https://www.ncbi.nlm.nih.gov/pubmed/34362826
http://dx.doi.org/10.1101/mcs.a006110

Ejemplares similares