A carregar...
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia
Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogeneous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencin...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4163542/ https://ncbi.nlm.nih.gov/pubmed/24628545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12379 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|