Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.
Wiedemann–Steiner syndrome
children
dysmorphic
genetic
neurodevelopmental delay
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
25
05
2020
accepted:
11
08
2020
entrez:
30
6
2022
pubmed:
23
9
2020
medline:
23
9
2020
Statut:
epublish
Résumé
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the
Identifiants
pubmed: 35769955
doi: 10.1055/s-0040-1716709
pii: 2000078
pmc: PMC9236732
doi:
Types de publication
Case Reports
Langues
eng
Pagination
162-164Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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