Article
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Nature genetics - 1 Nov 2002
Parvari Ruti, Hershkovitz Eli, Grossman Nili, Gorodischer Rafael, Loeys Bart, Zecic Alexandra, Mortier Geert, Gregory Simon, Sharony Reuven, Kambouris Marios, Sakati Nadia, Meyer Brian F, Al Aqeel Aida I, Al Humaidan Abdul Karim, Al Zanhrani Fatma, Al Swaid Abdulrahman, Al Othman Johara, Diaz George A, Weiner Rory, Khan K Tahseen S, Gordon Ronald, Gelb Bruce D
Abstract excerpt
The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey...
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