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Article

SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Hacıhamdioğlu Duygu Övünç, Altan Ferhatoğlu Zeynep, Karkucak Mutlu, Fişek İzci Neslihan Müge, Yakut Tahsin

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PMID: 35438212
DOI: 10.1111/ped.15087

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SPINK5 mutation and FLG gene deletion in an infant with Netherton syndrome.PMID 35438212Read ↗

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Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.Semantic proximity Read ↗

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Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.Semantic proximity Read ↗

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.Semantic proximity Read ↗

5p deletions: Current knowledge and future directions.Semantic proximity Read ↗

New mutation leading to the full variety of typical features of the Netherton syndrome.Semantic proximity Read ↗

Netherton syndrome: A neonatal case with respiratory insufficiency.Semantic proximity Read ↗

A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene.Semantic proximity Read ↗

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.Semantic proximity Read ↗

Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.Semantic proximity Read ↗

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