A Recurrent Pathogenic Variant of INPP5K Underlies...

Frontiers in Genetics 2020 / 9 Vol. 11

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercu
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Volume:
11
Journal:
Frontiers in Genetics
DOI:
10.3389/fgene.2020.565868
Date:
September, 2020
File:
PDF, 890 KB
2020
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