MLPA
PUDP gene
STS gene
X-linked ichthyosis
copy-number variation
hemizygous deletion
targeted panel sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
10 10 2023
10 10 2023
Historique:
received:
12
09
2023
revised:
05
10
2023
accepted:
07
10
2023
medline:
30
10
2023
pubmed:
28
10
2023
entrez:
28
10
2023
Statut:
epublish
Résumé
X-linked recessive ichthyosis (XLI) is clinically characterized by dark brown, widespread dryness with polygonal scales. We describe the identification of
Identifiants
pubmed: 37895274
pii: genes14101925
doi: 10.3390/genes14101925
pmc: PMC10606178
pii:
doi:
Substances chimiques
Steryl-Sulfatase
EC 3.1.6.2
PUDP protein, human
EC 3.1.3.-
STS protein, human
EC 3.1.6.2
Types de publication
Review
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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