Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD...
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
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Publisher
England: BioMed Central
Journal title
Language
English
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Publisher
England: BioMed Central
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Contents
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 diagnosed with Perrault syndrome (MIM # 233400), who presented...
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Full title
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4015298
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4015298
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ISSN
1471-2350,1471-2156
E-ISSN
1471-2350,1471-2156
DOI
10.1186/1471-2350-15-30
