Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation

Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation

Abstract Background Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4). Through molecular karyotyping and mutational analysis, a study identified re...

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Bibliographic Details
Main Authors: Sawsan AlBaazi, Hula Shareef
Format: Article
Language:English
Published: SpringerOpen 2020-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Pitt-Hopkins syndrome
PHS
Pitt-Hopkins-like syndrome intellectual deficit
Epilepsy
Facial dysmorphism
Cupid bow
Online Access:https://doi.org/10.1186/s43042-020-00113-0

Internet

https://doi.org/10.1186/s43042-020-00113-0

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