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...

Descripción completa

Detalles Bibliográficos
Autores principales: Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/
https://www.ncbi.nlm.nih.gov/pubmed/27790638
http://dx.doi.org/10.1212/NXG.0000000000000114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413/
https://www.ncbi.nlm.nih.gov/pubmed/27790638
http://dx.doi.org/10.1212/NXG.0000000000000114

Ejemplares similares