Associated Papers
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R et al.
Orphanet Journal of Rare Diseases, 2021
Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.
Gkourogianni A et al.
Acta Paediatrica (oslo, Norway : 1992), 2020
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
Giabicani E et al.
Journal of Medical Genetics, 2020
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
Walenkamp MJE et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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