Exome sequencing identifies novel and known mutations in families with intellectual disability

• Hauptverfasser: Memoona Rasheed (Verfasst von), Valeed Khan (Verfasst von), Ricardo Harripaul (Verfasst von), Maimoona Siddiqui (Verfasst von), Madiha Amin Malik (Verfasst von), Zahid Ullah (Verfasst von), Muhammad Zahid (Verfasst von), John B. Vincent (Verfasst von), Muhammad Ansar (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2021-08-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected indiv...