Article
Sanjad-Sakati syndrome in a Tunisian child.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2015
Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh F-Z, Ghédira E S, Gribaa M, Monastiri K
Abstract excerpt
Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy. SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.