KIF1A-associated neurological diseases (KANDs) are a group of inherited conditions
caused by changes in the microtubule (MT) motor protein KIF1A as a result of KIF1A gene …

Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical
phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned …

Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of
diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic …

Background Developmental dysplasia of the hip (DDH) is a complex developmental
deformity whose pathogenesis and susceptibility-related genes have yet to be elucidated …

The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS
panels, whereas exome sequencing (ES) has occasionally been employed. In this …

Objective To identify potential diagnostic markers for vitiligo and determine the significance
of immune cell infiltration in pathology. Methods Three publicly available gene expression …

Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk
factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a …

Background Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited
neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and …

六例KIF1A基因变异相关常染色体显性遗传神经发育障碍患儿临床和遗传学分析- PMC Back to Top
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Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of
diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic …