The rare DNA ligase IV syndrome: A case report

• Principais autores: Petroula Gerasimou (Autor), Laura Koumas (Autor), Andri Miltiadous (Autor), Ioannis Kyprianou (Autor), Jianxiang Chi (Autor), Rafaella Gavrielidou (Autor), Elena Socratous (Autor), Loizos Loizou (Autor), Eleni Papachristodoulou (Autor), Evagelia Karaoli (Autor), Anastasios Loizos (Autor), Violetta Anastasiadou (Autor), Paul Costeas (Autor)
• Formato: Livro
• Publicado em: Elsevier, 2020-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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-...