Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4-Reference-Cited by-同舟云学术

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Published:2017-11 Issue:11 Volume:60 Page:565-571
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bedeschi Maria Francesca,Marangi Giuseppe,Calvello Maria Rosaria,Ricciardi Stefania,Leone Francesca Pia Chiara,Baccarin Marco,Guerneri Silvana,Orteschi Daniela,Murdolo Marina,Lattante Serena,Frangella Silvia,Keena Beth,Harr Margaret H.,Zackai Elaine,Zollino Marcella^ORCID

Funder

Telethon

Italian Association Pitt-Hopkins syndrome

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference15 articles.

1. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system;de Winter;Orphanet J. Rare Dis.,2016

2. The emerging roles of TCF4 in disease and development;Forrest;Trends Mol. Med.,2014

3. Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability;Hamdan;Clin. Genet.,2013

4. Disruption of TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome;Kalscheuer;Am. J. Med. Genet. A,2008

5. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome;Kharbanda;Eur. J. Med. Genet.,2016

Cited by 20 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. A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency;American Journal of Medical Genetics Part A;2023-12-08

4. Hirschsprung disease;Nature Reviews Disease Primers;2023-10-12

5. 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