A novel <i>SPINK5</i> donor splice site variant in a child with Netherton syndrome

Dillon Mintoff(University of Malta), Judith Fischer(University of Freiburg), Liam Mercieca(Mater Dei Hospital), Rijad Merdzanic(Centogene (Germany)), Johannes Numrich(Centogene (Germany)), Isabella Borg(University of Malta), Julia Vornweg(University of Freiburg), Susan Aquilina(Mater Dei Hospital), Nikolai Paul Pace(University of Malta)
Molecular Genetics & Genomic Medicine
February 3, 2021
Cited by 3


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