Accès ouvert
2025
article
OpenAlex
Ruofei Lian, Gongao Wu, Liang Jin, Shichao Zhao et autres
BACKGROUND: The ADP-ribosylation factor 1 (ARF1) gene encodes a protein which plays a critical role in intra-Golgi transport. Clinical evidence suggests that individuals harbouring variants in the ARF1 gene display a consistent set of phenotypic features, including intellectual disability, microcephaly, epilepsy, and …
cn
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Accès ouvert
2024
article
OpenAlex
Gongao Wu, Ruofei Lian, Mengchun Li, Liang Jin et autres
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 spasticity, cataracts, and cerebellar hypoplasia. So far …
cn
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Accès ouvert
2024
article
OpenAlex
Ruofei Lian, Gongao Wu, Falin Xu, Shichao Zhao et autres
BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene (SRY-Box Transcription Factor 5, HGNC: 11201) on chromosome 12p12. A …
cn
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Accès ouvert
2023
article
OpenAlex
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li et autres
OBJECTIVE: Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective family histories. METHODS: We describe the clinical presentation and magnetic …
cn
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Accès ouvert
2023
article
OpenAlex
Yanhong Dong, Liang Jin, Mengchun Li, Ruofei Lian et autres
Objective This study aims to describe the characteristics of the brain network attributes in children diagnosed with Infantile Epileptic Spasms Syndrome (IESS) and to determine the influence exerted by adrenocorticotrophic hormone (ACTH) or methylprednisolone (MP) on network attributes. Methods In this retrospective …
cn
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Accès ouvert
2023
article
OpenAlex
Yan Dong, Ruofei Lian, Liang Jin, Shichao Zhao et autres
Background Intellectual disability, X-linked, syndromic, Christianson type (MRXSCH, OMIM: 300243)—known as Christianson syndrome (CS)—is characterized by microcephaly, epilepsy, ataxia, and absence of verbal language ability. CS is attributed to mutations in the solute carrier family 9 member A6 gene (SLC9A6). Materials and …
cn
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