Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

• Principais autores: Muhammad Ilyas (Autor), Stephanie Efthymiou (Autor), Vincenzo Salpietro (Autor), Nuzhat Noureen (Autor), Faisal Zafar (Autor), Sobiah Rauf (Autor), Asif Mir (Autor), Henry Houlden (Autor)
• Formato: Livro
• Publicado em: BMC, 2020-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The iden...