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

Hacihamdioglu, Duygu Övünç; Altan Ferhatoglu, Zeynep; Karkucak, Mutlu; Fisek Izci, Neslihan Müge; Yakut, Tahsin

Hacihamdioglu, Duygu Övünç; Altan Ferhatoglu, Zeynep; Karkucak, Mutlu; Fisek Izci, Neslihan Müge; Yakut, Tahsin.

Afiliação

Hacihamdioglu DÖ; Department of Pediatrics, Division of Pediatric Nephrology, Bahçesehir University Medicine Faculties, Medical Park Göztepe Hospital, Istanbul, Turkey.
Altan Ferhatoglu Z; Department of Dermatology, Bahçesehir University Medicine Faculties, Medical Park Göztepe Hospital, Istanbul, Turkey.
Karkucak M; Medical Geneticist, Istinye University Genetic Diseases Assessment Center, Istanbul, Turkey.
Fisek Izci NM; Department of Dermatology, Bahçesehir University Medicine Faculties, Medical Park Göztepe Hospital, Istanbul, Turkey.
Yakut T; Medical Geneticist, Istinye University Genetic Diseases Assessment Center, Istanbul, Turkey.

Pediatr Int ; 64(1): e15087, 2022 01.

Article em En | MEDLINE | ID: mdl-35438212

Assuntos

Síndrome de Netherton; Deleção de Genes; Humanos; Lactente; Mutação; Síndrome de Netherton/diagnóstico; Síndrome de Netherton/genética; Fenótipo; Inibidor de Serinopeptidase do Tipo Kazal 5/genética

Palavras-chave

SPINK5; Netherton syndrome; filaggrin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Netherton Tipo de estudo: Diagnostic_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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