Supplemental Data: Approach to the patient with suspected Silver-Russell syndrome
Published: 5 June 2024| Version 1 | DOI: 10.17632/8dfn4m8z29.1
Contributors:
Uttara Kurup, , , , , , Description
Phenotypes of reported CDKN1C, IGF2, HMGA2 and PLAG1 gene defect cases: NH-CSS and other associated clinical features
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Steps to reproduce
An extensive literature search identified clinical cases/details for: HMGA2 (n=17), CDKN1C (n=18), IGF-2 (n=23), and PLAG1 (n=10). We assessed whether NH-CSS criteria highlighted these monogenic SRS causes and the phenotypic features.
Institutions
Queen Mary University of London, University of Southampton, William Harvey Research Institute, University Hospital Southampton NHS Foundation Trust
Categories
Genetics, Endocrinology, Pediatrics, Growth Disorder