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-同舟云学术

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 267 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. Neurodevelopmental and Neuropsychiatric Perspectives on Respiratory Control: Understanding Congenital and Developmental Disorders;Current Respiratory Medicine Reviews;2025-02

2. Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome;Skeletal Muscle;2024-07-18

3. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants;Human Genetics and Genomics Advances;2024-07

4. Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations;BMC Oral Health;2024-05-22

5. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease;PLOS Genetics;2024-05-07