The rare DNA ligase IV syndrome: A case report

The rare DNA ligase IV syndrome: A case report

The DNA ligase IV syndrome is a rare hereditary disorder associated with impaired DNA double-strand break repair mechanisms, associated with combined immunodeficiency. We investigated a 12-year old patient with obvious syndromic features, severe microcephaly, short stature, low body weight and bird-...

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Bibliographic Details
Main Authors: Petroula Gerasimou, Laura Koumas, Andri Miltiadous, Ioannis Kyprianou, Jianxiang Chi, Rafaella Gavrielidou, Elena Socratous, Loizos Loizou, Eleni Papachristodoulou, Evagelia Karaoli, Anastasios Loizos, Violetta Anastasiadou, Paul Costeas
Format: Article
Language:English
Published: Elsevier 2020-11-01
Series:Human Pathology: Case Reports
Subjects:
LIG4
Novel mutation
Deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214330020300912

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http://www.sciencedirect.com/science/article/pii/S2214330020300912

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