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

Abstract 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...

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Autori principali:	Antonella Fanelli, Silvia Vannelli, Deepak Babu, Simona Mellone, Alessia Cucci, Alice Monzani, Wael Al Essa, Andrea Secco, Antonia Follenzi, Simonetta Bellone, Flavia Prodam, Mara Giordano
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2022-01-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	array CGH enhancers LWD short stature SHOX
Accesso online:	https://doi.org/10.1002/mgg3.1793
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