A carregar...
A family of Melnick-Needles syndrome: a case report
BACKGROUND: Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe three members of the same family with MNS, who exhibited different phenotypic s...
Na minha lista:
| Publicado no: | BMC Pediatr |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7436951/ https://ncbi.nlm.nih.gov/pubmed/32814550 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02288-2 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|