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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में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Majid Aminzadeh (लेखक), Hamid Galehdari (लेखक), Gholamreza Shariati (लेखक), Nasrin Malekpour (लेखक), Pegah Ghandil (लेखक)
स्वरूप: पुस्तक
प्रकाशित: Elsevier, 2020-01-01T00:00:00Z.
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बोधानक: A1234.567
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