Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5...

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Detalles Bibliográficos
Autores principales: Tripon, Florin, Bogliș, Alina, Micheu, Cristian, Streață, Ioana, Bănescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349262/
https://www.ncbi.nlm.nih.gov/pubmed/32481733
http://dx.doi.org/10.3390/genes11060596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349262/
https://www.ncbi.nlm.nih.gov/pubmed/32481733
http://dx.doi.org/10.3390/genes11060596

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