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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Yildiz, Yilmaz; Kosukcu, Can; Aygün, Damla; Akçaboy, Meltem; Öztek Çelebi, Fatma Zehra; Tasci Yildiz, Yasemin; Sahin, Gülseren; Aytekin, Caner; Yüksel, Deniz; Lay, Incilay; Özgül, Riza Köksal; Dursun, Ali.
Afiliação
  • Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Kosukcu C; Department of Pediatric Metabolic Diseases, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Aygün D; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Akçaboy M; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
  • Öztek Çelebi FZ; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Tasci Yildiz Y; Department of Pediatrics, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Sahin G; Department of Pediatrics, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Aytekin C; Department of Pediatric Radiology, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Yüksel D; Department of Pediatric Gastroenterology, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Lay I; Department of Pediatric Allergy and Immunology, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Özgül RK; Department of Pediatric Neurology, Dr. Sami Ulus Training and Research Hospital for Maternity and Child Health, Ankara, Turkey.
  • Dursun A; Department of Medical Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Clin Genet ; 100(3): 308-317, 2021 09.
Article em En | MEDLINE | ID: mdl-34013567
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridoses / Mutação de Sentido Incorreto / Proteínas de Transporte Vesicular Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridoses / Mutação de Sentido Incorreto / Proteínas de Transporte Vesicular Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article