A carregar...
An Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia Secondary to Lamin B Receptor (LBR) Gene Mutations: Further Definition of the Phenotypic Heterogeneity of LBR-Bone Dysplasias
We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history...
Na minha lista:
| Publicado no: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4882113/ https://ncbi.nlm.nih.gov/pubmed/25348816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36808 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|