A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.

Demir, Engin; Dogulu, Neslihan; Tuna Kirsaçlioglu, Ceyda; Topçu, Vehap; Eminoglu, Fatma Tuba; Kuloglu, Zarife; Kansu, Aydan

Demir, Engin; Dogulu, Neslihan; Tuna Kirsaçlioglu, Ceyda; Topçu, Vehap; Eminoglu, Fatma Tuba; Kuloglu, Zarife; Kansu, Aydan.

Afiliação

Demir E; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Dogulu N; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Tuna Kirsaçlioglu C; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Topçu V; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
Eminoglu FT; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kuloglu Z; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kansu A; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.

Mol Syndromol ; 14(2): 136-142, 2023 Apr.

Article em En | MEDLINE | ID: mdl-37064336

Palavras-chave

Contiguous gene deletion; Glutaric aciduria type 3; Hypertransaminasemia; Microarray analysis; Trichothiodystrophy type 4

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Turquia

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