Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research

Background: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC), induced by MED27 gene, is an autosomal recessive rare disorder characterized by widespread developmental delay with varying degrees of intellectual impairment. Other symptoms include limb spastic...

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Autori principali:	Gongao Wu, Ruofei Lian, Mengchun Li, Liang Jin, Tianming Jia, Lijun Wang, Ling Gan, Shichao Zhao, Ruirui Liang, Yan Dong
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2024-09-01
Serie:	Heliyon
Soggetti:	MED27 gene variant NEDSCAC Global developmental delay Genetics
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2405844024132896
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