Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
MPSPS
VPS33A
mucopolysaccharidosis
prenatal diagnosis
the Yakuts
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
03 08 2023
03 08 2023
Historique:
received:
04
07
2023
revised:
15
07
2023
accepted:
01
08
2023
medline:
28
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the
Identifiants
pubmed: 37628632
pii: genes14081581
doi: 10.3390/genes14081581
pmc: PMC10454871
pii:
doi:
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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