Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in <i>SETBP1</i> Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
Gianmaria Miolo,
Davide Colavito,
Lara Della Puppa
et al.
Abstract:<b><i>Introduction:</i></b> <i>SETBP1</i> gene variants that decrease or eliminate protein activity have been associated with phenotypes characterized by speech apraxia and intellectual disabilities. This condition, distinctly separated from Schinzel-Giedion syndrome, is referred to as autosomal dominant mental retardation 29 (ADR29). <b><i>Case Presentation:</i></b> In this report, we present the case of a 6-year-old male patient exhibiting fine and … Show more
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