<i>STS</i> and <i>PUDP</i> Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

Park, Joonhong; Cho, Yong Gon; Kim, Jin Kyu; Kim, Hyun Ho

STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.

Park, Joonhong; Cho, Yong Gon; Kim, Jin Kyu; Kim, Hyun Ho.

Afiliação

Park J; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Cho YG; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Kim JK; Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Kim HH; Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.

Genes (Basel) ; 14(10)2023 10 10.

Article em En | MEDLINE | ID: mdl-37895274

Assuntos

Ictiose Ligada ao Cromossomo X; Esteril-Sulfatase; Humanos; Lactente; Masculino; Variações do Número de Cópias de DNA/genética; Ictiose Ligada ao Cromossomo X/genética; Ictiose Ligada ao Cromossomo X/diagnóstico; Reação em Cadeia da Polimerase Multiplex; Pele; Esteril-Sulfatase/genética

Palavras-chave

MLPA; PUDP gene; STS gene; X-linked ichthyosis; copy-number variation; hemizygous deletion; targeted panel sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Ligada ao Cromossomo X / Esteril-Sulfatase Limite: Humans / Infant / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article

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