Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Cited by 24 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Methods for Detecting Abnormal Ventilation in Children - the Case Study of 13-Years old Pitt-Hopkins Girl;Child Neurology Open;2023-01
2. Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene;European Journal of Neurology;2021-10-07
3. Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation;Egyptian Journal of Medical Human Genetics;2020-12
4. Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report;Russian Journal of Child Neurology;2019-07-28
5. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement;Clinical Genetics;2019-02-18
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