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
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation.
Rockstroh D et al.
European Journal of Endocrinology, 2019
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome.
Xia CL et al.
Frontiers in Genetics, 2019
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Tümer Z et al.
Human Mutation, 2018
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
Yamoto K et al.
Human Mutation, 2017
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