Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a
ES, exome sequencing
GS, genome sequencing
Genetic testing
Genome sequencing
IRD, infantile Refsum disease
MAF, minor allele frequency
NALD, neonatal adrenoleukodystrophy
PBD, peroxisome biogenesis disorder
PEX3
PMP, peroxisomal membrane protein
Peroxisome biogenesis disorder
RCDP, rhizomelic chondrodysplasia punctata
VLCFA, very-long chain fatty acids
X-ALD, X-linked adrenoleukodystrophy
ZS, Zellweger syndrome
ZSD, Zellweger spectrum disorder
Zellweger spectrum disorder
gnomAD, Genome Aggregate Database
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
06
07
2020
revised:
09
10
2020
accepted:
10
10
2020
entrez:
26
10
2020
pubmed:
27
10
2020
medline:
27
10
2020
Statut:
epublish
Résumé
Defects in
Identifiants
pubmed: 33101983
doi: 10.1016/j.ymgmr.2020.100664
pii: S2214-4269(20)30110-5
pmc: PMC7578253
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100664Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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