Article

Exome Sequencing Revealed Mutations in ADAT3 and HERC2 Genes in two Sudanese Families with Syndromic Mental Retardation

2020-08-07

Abstract excerpt

<title>Abstract</title> <p>BackgroundAutosomal recessive intellectual disabilities, syndromic and non-syndromic, are of specific importance in consanguineous communities. High throughput sequencing technologies have enhanced diagnosing the Mendelian forms of intellectual disability. Mental retardation 36 and 38 are emerging clinical entities with variable presentations that extend beyond adaptive and intellectual...

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Literature Corpus work: 539aac3d-50e1-5f75-a75e-3384c208107b
DOI: 10.21203/rs.3.rs-46782/v1

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