1.
Adv Exp Med Biol
; 1299: 81-87, 2020.
Article
in English
| MEDLINE
| ID: mdl-33417209
ABSTRACT
Heimler syndrome is a rare syndrome associating sensorineural hearing loss with retinal dystrophy and amelogenesis imperfecta due to PEX1 or PEX6 biallelic pathogenic variations. This syndrome is one of the less severe forms of peroxisome biogenesis disorders. In this chapter, we will review clinical, biological, and genetic knowledges about the Heimler syndrome.