KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

ABSTRACT: This case analysis examines the clinical data, molecular genetic testing results, and 20-month clinical data of long-acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported, thereby enriching the genetic mutation spectrum of KBGS. Following treatment with long-acting rhGH, the child showed significant improvement in height without adverse reactions.

SUBMITTER: Nan H 

PROVIDER: S-EPMC12759011 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature