Cargando…
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome()
OBJECTIVE: Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad–Sakati syndrome (also known as hypoparathyroidism—intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432144/ https://www.ncbi.nlm.nih.gov/pubmed/30080992 http://dx.doi.org/10.1016/j.jped.2018.07.005 |