Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in
Mucopolysaccharidosis VII
Sly syndrome
clinical exome sequencing
glycosaminoglycans
prenatal diagnosis
β‐glucuronidase
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
10
10
2020
revised:
17
11
2020
accepted:
25
11
2020
entrez:
18
2
2021
pubmed:
19
2
2021
medline:
19
2
2021
Statut:
epublish
Résumé
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Identifiants
pubmed: 33598246
doi: 10.1002/ccr3.3644
pii: CCR33644
pmc: PMC7869334
doi:
Types de publication
Case Reports
Langues
eng
Pagination
790-795Informations de copyright
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
There are no conflicts of interest to disclose. There is no funding or financial support to declare for this study. The manuscript complies with the ethical approval requirements. The data that support the findings of this study are available from the corresponding author upon reasonable request.
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