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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: Majid Aminzadeh (Autor), Hamid Galehdari (Autor), Gholamreza Shariati (Autor), Nasrin Malekpour (Autor), Pegah Ghandil (Autor)
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

Detalhes do Exemplar 3rd Floor Main Library
Número de Chamada: A1234.567
Cópia 1 Disponível