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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...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8146857/ https://ncbi.nlm.nih.gov/pubmed/33926089 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050646 |
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