A carregar...
Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?
Nance–Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance–Horan syndrome caused by a new nonsense NHS variant. In addition, the patient prese...
Na minha lista:
| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5839023/ https://ncbi.nlm.nih.gov/pubmed/29358614 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0032-z |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|