Chargement en cours...
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and character...
Enregistré dans:
| Publié dans: | Nat Genet |
|---|---|
| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2004
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4902017/ https://ncbi.nlm.nih.gov/pubmed/15146186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1364 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|