Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause of haploinsufficiency. During diagnostic genetic testin...

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Udgivet i:Eur J Hum Genet
Main Authors: Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852508/
https://ncbi.nlm.nih.gov/pubmed/32647378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0676-y
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