Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease
Article in Molecular Syndromology (April 2024)
The most recent citing publications are shown below. View all 22 publications that cite this research output on Dimensions.
Management of oral manifestations of a child with Heimler Syndrome-2
Article in BMJ Case Reports (April 2024)
Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.
Article in European Journal of Ophthalmology (March 2024)