Cargando…
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overl...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804382/ https://www.ncbi.nlm.nih.gov/pubmed/36039988 http://dx.doi.org/10.1111/ahg.12462 |