Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the <i>TCF4</i> gene associate mild intellectual disability (I...
Main Authors: | Florin Tripon, Alina Bogliș, Cristian Micheu, Ioana Streață, Claudia Bănescu |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-05-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/6/596 |
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