Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

• Main Authors: Mohammad-Reza Ghasemi (Author), Hossein Sadeghi (Author), Farzad Hashemi-Gorji (Author), Reza Mirfakhraie (Author), Vijay Gupta (Author), Afif Ben-Mahmoud (Author), Saman Bagheri (Author), Katayoon Razjouyan (Author), Shadab Salehpour (Author), Seyed Hassan Tonekaboni (Author), Mehdi Dianatpour (Author), Davood Omrani (Author), Mi-Hyeon Jang (Author), Lawrence C. Layman (Author), Mohammad Miryounesi (Author), Hyung-Goo Kim (Author)
• Format: Book
• Published: BMC, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background and objective Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode...