Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations-Reference-Cited by-同舟云学术

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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Published:2009-11 Issue:11 Volume:11 Page:797-805
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Rosenfeld Jill A.,Leppig Kathleen,Ballif Blake C.,Thiese Heidi,Erdie-Lalena Christine,Bawle Erwati,Sastry Sujatha,Spence J. Edward,Bandholz Anne,Surti Urvashi,Zonana Jonathan,Keller Kory,Meschino Wendy,Bejjani Bassem A.,Torchia Beth S.,Shaffer Lisa G.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference43 articles.

Cited by 72 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. Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay;Human Gene;2024-09

2. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08

3. TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons;Biological Psychiatry;2023-08

4. A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation;Neurocase;2023-07-04

5. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders;Cells;2023-05-21

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