Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis

BACKGROUND: SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non‐coding elements (CNEs) represent one of the most frequent cause of SHOX‐haploinsufficiency. During the diagnostic workflow deletions/duplications have been identified downstream SHOX not includin...

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Detalles Bibliográficos
Autores principales: Fanelli, Antonella, Vannelli, Silvia, Babu, Deepak, Mellone, Simona, Cucci, Alessia, Monzani, Alice, Al Essa, Wael, Secco, Andrea, Follenzi, Antonia, Bellone, Simonetta, Prodam, Flavia, Giordano, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801136/
https://www.ncbi.nlm.nih.gov/pubmed/34811950
http://dx.doi.org/10.1002/mgg3.1793

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801136/
https://www.ncbi.nlm.nih.gov/pubmed/34811950
http://dx.doi.org/10.1002/mgg3.1793

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