A novel variant in NSUN2 causes intellectual disability in a Chinese family

Abstract 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...

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Ngā kaituhi matua: Qi Yang (Author), Qiang Zhang (Author), Zailong Qin (Author), Shang Yi (Author), Jingsi Luo (Author)
Hōputu: Pukapuka
I whakaputaina: BMC, 2024-04-01T00:00:00Z.
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