Article
Hajdu-Cheney Syndrome: A Systematic Review of the Literature.
International journal of environmental research and public health - 25 Aug 2020
Cortés-Martín Jonathan, Díaz-Rodríguez Lourdes, Piqueras-Sola Beatriz, Rodríguez-Blanque Raquel, Bermejo-Fernández Antonio, Sánchez-García Juan Carlos
Abstract excerpt
Hajdu-Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2. The described...
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