Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

Springer Nature Link·Jul 23

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Research has identified a range of phenotypic anomalies in families with genetic deletions or variants, expanding the known spectrum of related conditions. The conditions and genes involved appear to vary, with studies focusing on different genes such as SHOX, NOTCH1, and BCL11A. The findings suggest a complex relationship between genetic mutations and their resulting phenotypic effects, with multiple genes and conditions exhibiting a broad range of clinical manifestations.

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