Article

A Novel Variant in NSUN2 Causes Intellectual Disability in a Chinese Family

2023-10-06

Abstract excerpt

<title>Abstract</title> <p>NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the <italic>N...

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Literature Corpus work: de3a337b-c6f8-575c-a677-8b66a047ba56
DOI: 10.21203/rs.3.rs-3378837/v1

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