A carregar...
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant
RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Au...
Na minha lista:
| Publicado no: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7220430/ https://ncbi.nlm.nih.gov/pubmed/32282736 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000019751 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|