A long way to syndromic short stature

Abstract Background Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular facial appearance, broad forehead, body asymmetry an...

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Bibliographic Details
Published in:Italian Journal of Pediatrics
Main Authors: Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani
Format: Article
Language:English
Published: BMC 2024-09-01
Subjects:
Case report
Short stature
Silver Russell Syndrome
Temple syndrome
NSD1 duplication
Online Access:https://doi.org/10.1186/s13052-024-01737-3

Internet

https://doi.org/10.1186/s13052-024-01737-3

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