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...
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Principais autores: | , , , , |
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Formato: | Livro |
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Elsevier,
2020-01-01T00:00:00Z.
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Número de Chamada: |
A1234.567 |
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Cópia 1 | Disponível |