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, David Lim, Helena Palau, Avinaash Maharaj, Miho Ishida, Justin Davies, Helen Storr

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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