The Pitt-Hopkins Syndrome: Report of 5 Patients and Literature Comparison
Pitt-Hopkins syndrome (PTHS) is characterized by developmental delay, intellectual disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities. PTHS is caused by deletions or pathological variants in the TCF4 gene located at 18q21.2. In this report, we aimed to describ...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Alanya Alaaddin Keykubat University
2021-12-01
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| Series: | Acta Medica Alanya |
| Subjects: | |
| Online Access: | https://dergipark.org.tr/tr/download/article-file/1620351 |
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