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...
Na minha lista:
| Principais autores: | , , , , |
|---|---|
| Formato: | Livro |
| Publicado em: |
Elsevier,
2020-01-01T00:00:00Z.
|
| Assuntos: | |
| Acesso em linha: | Connect to this object online. |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|
Internet
Connect to this object online.3rd Floor Main Library
| Número de Chamada: |
A1234.567 |
|---|---|
| Cópia 1 | Disponível |