Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Title
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
Authors
Keywords
Pitt-Hopkins syndrome, TCF4, NLS domain, bHLH domain
Journal
European Journal of Medical Genetics
Volume 60, Issue 11, Pages 565-571
Publisher
Elsevier BV
Online
2017-08-12
DOI
10.1016/j.ejmg.2017.08.004

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