Article
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
Annals of Saudi medicine - 1 Jan 2000
Ratbi Ilham, Lyahyai Jaber, Kabiri Meryem, Banouar Meryem, Zerkaoui Maria, Barkat Amina, Sefiania Abdelaziz
Abstract excerpt
Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities. The prevalence of SSS is unknown. Reported patients...
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