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
IGF2 Mutations.
Masunaga Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto K et al.
European Journal of Human Genetics : Ejhg, 2019
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