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JCEM Case Reports|April 23, 2026
Early GH therapy and neurodevelopmental outcome in a child with compound heterozygous <i>IGF1R</i> variantsMariana Sá Pinto, Mariana Oliveira, Tomás Ferrão, et al.
Cureus|February 6, 2026
A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case ReportMargarida Moreno Fernandes, Mariana Rodrigues Neto, Mariana Sá Pinto, et al.
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