Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.
ICU
MAGEL2
phenotype–genotype association
rapid whole genome sequencing
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
26
05
2023
revised:
06
07
2023
accepted:
12
07
2023
medline:
2
8
2023
pubmed:
2
8
2023
entrez:
2
8
2023
Statut:
epublish
Résumé
We report two, genotypically identical but phenotypically distinct cases of Schaaf-Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.
Identifiants
pubmed: 37529132
doi: 10.1002/ccr3.7753
pii: CCR37753
pmc: PMC10387585
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e7753Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
We know of no conflicts of interests associated with this publication, and there has been no significant financial support for this work that could have influenced its outcome. As Corresponding Author, I confirm that the manuscript has been read and approved for submission by all the named authors
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