Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

@article{Parvari2002MutationOT,
  title={Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome},
  author={Ruti Parvari and Eli Hershkovitz and Nili Grossman and Rafael Gorodischer and Bart Loeys and Alexandra Zecic and Geert Mortier and Simon R Gregory and Reuven Sharony and Marios Kambouris and Nadia Sakati and Brian Francis Meyer and Aida I Al Aqeel and Abdul Karim Al Humaidan and Fatma Al Zanhrani and Abdulrahman Al Swaid and Johara Al Othman and George A Diaz and Rory B. Weiner and K Tahseen S Khan and Ronald D. Gordon and Bruce D Gelb},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={448-452}
}
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 syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43… CONTINUE READING