Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients-Reference-Cited by-同舟云学术

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

Published:2022-04 Issue:4 Volume:65 Page:104458
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Masson Julie^ORCID,Pons Linda^ORCID,Busa Tiffany,Missirian Chantal,Lines Matthew,Tevissen Hélène,Diguet Flavie,Rollat-Farnier Pierre-Antoine,Lesca Gaétan,Sanlaville Damien,Schluth-Bolard Caroline

Funder

Direction Générale de l’offre de Soins

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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3. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4;Bedeschi;Eur. J. Med. Genet.,2017

4. An integrated encyclopedia of DNA elements in the human genome;Nature,2012

5. GeneHancer: Genome-wide Integration of Enhancers and Target Genes in GeneCards;Fishilevich,2017

Cited by 3 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. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08

2. A typical variant in TCF4 exon 18 is not associated with P itt– H opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder;American Journal of Medical Genetics Part A;2022-12-27

3. The recurrent TCF4 missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome;Clinical Genetics;2022-08-16