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

Pitt-Hopkins syndrome (PHS) is a rare syndromic encephalopathy characterized by daily bouts of hyperventilation and a facial gestalt. We report a 1.8-Mb de novo microdeletion on chromosome 18q21.1, identified by array–comparative genomic hybridization in one patient with PHS. We subsequently identif...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2007
Soggetti:
Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852736/
https://ncbi.nlm.nih.gov/pubmed/17436254
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi