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Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Heimler Syndrome
S Mechaussier1, I Perrault1, H Dollfus2,3
1Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris University, Paris, France.
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.
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