Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction-Reference-Cited by-全球学者库

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Published:2007-05 Issue:5 Volume:80 Page:988-993
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Amiel Jeanne,Rio Marlène,Pontual Loïc de,Redon Richard,Malan Valérie,Boddaert Nathalie,Plouin Perrine,Carter Nigel P.,Lyonnet Stanislas,Munnich Arnold,Colleaux Laurence

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. A syndrome of mental retardation, wide mouth and intermittent overbreathing;Pitt;Aust Paediatr J,1978

2. Mental retardation, macrostomia and hyperpnoea syndrome;Singh;J Paediatr Child Health,1993

3. Mental retardation, “coarse” face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome;Van Balkom;Am J Med Genet,1998

4. Possible case of Pitt-Hopkins syndrome in sibs;Orrico;Am J Med Genet,2001

5. Pitt-Hopkins syndrome in two patients and further definition of the phenotype;Peippo;Clin Dysmorphol,2006

Cited by 257 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. Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype;Cureus;2023-08-20

2. Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly;iScience;2023-07

3. An in silico prediction of interaction models of influenza A virus PA and human C14orf166 protein from yeast‐two‐hybrid screening data;Proteins: Structure, Function, and Bioinformatics;2023-06-02

4. Gene regulatory changes underlie developmental plasticity in respiration and aerobic performance in highland deer mice;Molecular Ecology;2023-04-19

5. Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt–Hopkins syndrome;Brain;2023-04-18