Ontology highlight
ABSTRACT:
SUBMITTER: Cortes-Martin J
PROVIDER: S-EPMC7504254 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Cortés-Martín Jonathan J Díaz-Rodríguez Lourdes L Piqueras-Sola Beatriz B Rodríguez-Blanque Raquel R Bermejo-Fernández Antonio A Sánchez-García Juan Carlos JC
International journal of environmental research and public health 20200825 17
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 <i>NOTCH2</i>. The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. ...[more]