Carregando...
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but mi...
Na minha lista:
| Publicado no: | Medicine (Baltimore) |
|---|---|
| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7982231/ https://ncbi.nlm.nih.gov/pubmed/33726005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000025169 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|