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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| 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 |