Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

@inproceedings{Amor2016HeterozygousMI,
  title={Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency},
  author={David J Amor and Ashley P L Marsh and Elsdon Storey and Rick Tankard and Greta Gillies and Martin B. Delatycki and Kate Pope and C. J. Bromhead and Richard Jacob Leventer and Melanie Bahlo and Paul J Lockhart},
  booktitle={Neurology. Genetics},
  year={2016}
}
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 examination, and brain MRI. Linkage analysis was performed… CONTINUE READING