TY  - JOUR
AU  - Cortés-Martín, Jonathan
AU  - Díaz-Rodríguez, Lourdes
AU  - Piqueras-Sola, Beatriz
AU  - Rodríguez-Blanque, Raquel
AU  - Bermejo-Fernández, Antonio
AU  - Sánchez-García, Juan Carlos
PY  - 2020
DO  - 10.3390/ijerph17176174
UR  - http://hdl.handle.net/10668/16167
T2  - International journal of environmental research and public health
AB  - 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...
LA  - en
KW  - Hajdu–Cheney syndrome
KW  - NOTCH2
KW  - acroosteolysis
KW  - connective tissue
KW  - rare diseases
KW  - receptor
KW  - Acro-Osteolysis
KW  - Hajdu-Cheney Syndrome
KW  - Humans
KW  - Mutation
KW  - Osteoporosis
KW  - Phenotype
KW  - Radiography
KW  - Rare Diseases
KW  - Receptor, Notch2
TI  - Hajdu-Cheney Syndrome: A Systematic Review of the Literature.
TY  - research article
VL  - 17
ER  -