Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutat...

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Main Authors: Gregorio Serra (Author), Luigi Memo (Author), Paola Cavicchioli (Author), Mario Cutrone (Author), Mario Giuffrè (Author), Maria Laura La Torre (Author), Ingrid Anne Mandy Schierz (Author), Giovanni Corsello (Author)
Format: Book
Published: BMC, 2022-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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