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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2022-01-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	array CGH enhancers LWD short stature SHOX
Acesso em linha:	https://doi.org/10.1002/mgg3.1793
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