A carregar...
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...
Na minha lista:
| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7349262/ https://ncbi.nlm.nih.gov/pubmed/32481733 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11060596 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|