Associated Papers
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.
Ventresca S et al.
Frontiers in Endocrinology, 2024
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
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