Carregant...
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2...
Guardat en:
| Publicat a: | J Pediatr Genet |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Georg Thieme Verlag KG
2019
|
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688880/ https://ncbi.nlm.nih.gov/pubmed/31406622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1683382 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|