SHOX mutation as a rare disease: molecular diagnosis and growth hormone treatment supported by the Italian public health system.

Abstract excerpt

Short stature homeobox-containing (SHOX) gene deficiency is acknowledged under the term "dyschondrosteosis", which is included in the family of congenital osteodystrophies. Under current regulations, the cost of the genetic testing and treatment with GH in children with short stature, and SHOX gene deficiency may be reimbursed. Prescription of costs exemption is subject to the identification of the regional...

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