Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome

Abstract excerpt

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 dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad–Sakati syndrome and to identify for the first...

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