Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation

Background: KIDINS220 encodes a transmembrane scaffold protein, kinase D-interacting substrate of 220 kDa, that regulates neurotrophin signaling. Variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome or prenatal fatal cerebral v...

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Bibliographic Details

Published in:	Heliyon
Main Authors:	Wenke Yang, Shuyue Wang, Xiaodong Huo, Ke Yang, Zhenglong Guo, Yanjun Li, Xinying Ji, Bingtao Hao, Shixiu Liao
Format:	Article
Language:	English
Published:	Elsevier 2024-09-01
Subjects:	SINO syndrome KIDINS220 gene Etiological variant Genotype Phenotype
Online Access:	http://www.sciencedirect.com/science/article/pii/S2405844024133865