학술논문

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Document Type
Article
Source
Clinical Genetics. Feb2024, Vol. 105 Issue 2, p228-230. 3p.
Subject
*ATAXIA
*GENETIC variation
*HYPOGONADISM
*FRIEDREICH'S ataxia
*HIRSCHSPRUNG'S disease
Language
ISSN
0009-9163