TY  - JOUR
AU  - Cortés-Martín, Jonathan
AU  - Díaz-Rodríguez, Lourdes
AU  - Piqueras-Sola, Beatriz
AU  - Sánchez-García, Juan Carlos
AU  - González, Antonio Liñán
AU  - Rodríguez-Blanque, Raquel
PY  - 2022
DO  - 10.3390/jcm11175205
SN  - 2077-0383
UR  - http://hdl.handle.net/10668/21344
T2  - Journal of clinical medicine
AB  - A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis,...
LA  - en
KW  - Hajdu-Cheney syndrome
KW  - NOTCH2
KW  - acroosteolysis
KW  - bone resorption
KW  - osteoporosis
KW  - rare diseases
TI  - Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.
TY  - research article
VL  - 11
ER  -