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

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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:BMC Medical Genomics
المؤلفون الرئيسيون: Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim
التنسيق: مقال
اللغة:الإنجليزية
منشور في: BMC 2024-08-01
الموضوعات:
Syndromic autism
Exome sequencing
Neurodevelopmental disorder
Muscular dystrophy
De novo variants
Consanguineous simplex family
الوصول للمادة أونلاين:https://doi.org/10.1186/s12920-024-01969-6

الانترنت

https://doi.org/10.1186/s12920-024-01969-6

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