Identification of a Homozygous PEX26 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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Detalles Bibliográficos
Autores principales: Kim, Youn Jung, Abe, Yuichi, Kim, Young-Jae, Fujiki, Yukio, Kim, Jung-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146857/
https://www.ncbi.nlm.nih.gov/pubmed/33926089
http://dx.doi.org/10.3390/genes12050646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146857/
https://www.ncbi.nlm.nih.gov/pubmed/33926089
http://dx.doi.org/10.3390/genes12050646

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