Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

BACKGROUND: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound heterozygous mutations in HSD17B4 have also been reported in two sisters d...

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Dettagli Bibliografici
Autori principali: Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4015298/
https://ncbi.nlm.nih.gov/pubmed/24602372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-30
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