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

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