Article
Sanjad Sakati syndrome: a case series from Jordan.
Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit - 1 May 2012
Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H
Abstract excerpt
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental...
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