Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

Published 2019 View Full Article

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Title
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome
Authors
Keywords
Craniosynostosis, Developmental delay, Metopic suture, Calvarial sutures, Cranial sutures
Journal
European Journal of Medical Genetics
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2019-02-24
DOI
10.1016/j.ejmg.2019.02.007

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