Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype

Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS...

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Detalles Bibliográficos
Autores principales: Comisi, Francesco, Esposito, Elena, Marras, Mariangela, Soddu, Consolata, Savasta, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507423/
https://www.ncbi.nlm.nih.gov/pubmed/37731434
http://dx.doi.org/10.7759/cureus.43781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10507423/
https://www.ncbi.nlm.nih.gov/pubmed/37731434
http://dx.doi.org/10.7759/cureus.43781

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