Chargement en cours...
A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype
Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused by HOXD13 mutations. The condition is rare and is known for its phenotypic heterogeneity. In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more sev...
Enregistré dans:
| Publié dans: | Biomed Res Int |
|---|---|
| Auteur principal: | |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Hindawi
2020
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7246408/ https://ncbi.nlm.nih.gov/pubmed/32509852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/2067186 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|