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Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
OBJECTIVE: To determine the genetic cause of slowly progressive cerebellar ataxia, sensorineural deafness, and hypergonadotropic hypogonadism in 5 patients from 3 different families. METHODS: The patients comprised 2 sib pairs and 1 sporadic patient. Clinical assessment included history, physical ex...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5070413/ https://ncbi.nlm.nih.gov/pubmed/27790638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000114 |
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