Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the <i>IGF1R</i> Gene
Our study explores the frequency of genetic SRS, underscores body asymmetry as a distinctive phenotype in (epi)genetic SRS and suggests IGF1R sequencing in a SRS diagnostic flowchart.
Authors
- Mohamad Maghnie (ORCID: https://orcid.org/0000-0002-7183-5238)
- Renata Auricchio (ORCID: https://orcid.org/0000-0001-6958-1251)
- Antonella Minelli (ORCID: https://orcid.org/0000-0003-0066-5195)
- Sara Guzzetti
- Emanuela Manfredini
- Rossella Gaudino (ORCID: https://orcid.org/0000-0002-6292-0246)
- Pierpaola Tannorella (ORCID: https://orcid.org/0000-0003-1367-9860)
- Flavia Napoli (ORCID: https://orcid.org/0000-0003-3567-6118)
- Elena Rossi (ORCID: https://orcid.org/0000-0001-9152-435X)
- Fabio Sirchia (ORCID: https://orcid.org/0000-0002-4598-2023)
- Silvia Russo (ORCID: https://orcid.org/0000-0002-5893-0193)
- Davide Gentilini (ORCID: https://orcid.org/0000-0002-8391-0725)
- Giuseppa Patti (ORCID: https://orcid.org/0000-0002-6217-1919)
- Cecilia Daolio
- Alessandro Vimercati (ORCID: https://orcid.org/0000-0002-7918-584X)
- Vincenzo Antona (ORCID: https://orcid.org/0000-0001-7643-9560)
- Melissa Bellini (ORCID: https://orcid.org/0009-0006-8399-139X)
- Maria Piccione (ORCID: https://orcid.org/0000-0001-6053-7000)
- Luciano Calzari (ORCID: https://orcid.org/0000-0003-4283-0988)
- Gabriella Pozzobon (ORCID: https://orcid.org/0000-0002-2618-2506)
- Giulia Gori (ORCID: https://orcid.org/0000-0002-8090-8945)
- Lidia Larizza (ORCID: https://orcid.org/0000-0002-1367-7227)
- Giacomo Biasucci (ORCID: https://orcid.org/0000-0002-7441-9248)
- Annalisa Russo Raucci
Institutions
- University of Verona (IT)
- University of Parma (IT)
- Vita-Salute San Raffaele University (IT)
- University of Pavia (IT)
- Istituto Giannina Gaslini (IT)
- University Hospital Foundation (CA)
- Meyer Children's Hospital (IL)
- Azienda Ospedaliera San Gerardo (IT)
- Federico II University Hospital (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Guglielmo da Saliceto Hospital (IT)
- Mylan (Switzerland) (CH)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- University of Genoa (IT)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-10-16
- DOI
- https://doi.org/10.1210/clinem/dgae730
- Citations
- 6
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 3.30
Funders
- Ministero della Salute