Work

Challenges of Phenotype-Genotype Correlations in Rare Diseases

Year: 2021

Type: letter

Source: JAMA Ophthalmology

DOI: 10.1001/jamaophthalmol.2021.4372

Authors: Margaux C. Masten, Erika F. Augustine, Jonathan W. Mink

Institutions: University of Rochester, Kennedy Krieger Institute

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology (medical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Institute of Neurological Disorders and Stroke

Award: Meaningful Outcomes and Multi-Site Readiness for Clinical Trials in Juvenile Neuronal Ceroid Lipofuscinosis

OpenAlex ID: W3210205091

Cites: 2

Cited by:

Related to: 10