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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-01-01
|
| Series: | Jornal de Pediatria |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0021755718304534 |