Identification of a Homozygous <i>PEX26</i> Mutation in a Heimler Syndrome Patient

Identification of a Homozygous <i>PEX26</i> Mutation in a Heimler Syndrome Patient

This study aimed to identify the molecular genetic etiology of an 8-year-old boy with amelogenesis imperfecta in permanent dentition. Bilateral cochlear implants were placed due to sensorineural hearing loss, and there was no other family member with a similar phenotype. Peripheral blood samples wer...

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Bibliographic Details
Main Authors: Youn-Jung Kim, Yuichi Abe, Young-Jae Kim, Yukio Fujiki, Jung-Wook Kim
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
amelogenesis imperfecta
hearing loss
whole exome sequencing
PEX26
temperature sensitivity
Heimler syndrome
Online Access:https://www.mdpi.com/2073-4425/12/5/646

Internet

https://www.mdpi.com/2073-4425/12/5/646

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