TY  - GEN 
AU  - Cortés Martín, Jonathan
AU  - Díaz Rodríguez, Consuelo Lourdes
AU  - Piqueras Sola, Beatriz
AU  - Sánchez García, Juan Carlos
AU  - Liñán González, Antonio
AU  - Rodríguez Blanque, Raquel
PY  - 2022
UR  - https://hdl.handle.net/10481/77042
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  - eng
PB  - MDPI
KW  - Hajdu-Cheney syndrome
KW  - Rare diseases
KW  - Acroosteolysis
KW  - Osteoporosis
KW  - Bone resorption
KW  - NOTCH2
TI  - Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report
DO  - 10.3390/jcm11175205
ER  -