Domain‐specific phenotypes in LINS1‐related disorder—A Chinese family with the Q92X variant and literature review
Xu‐Ying Li,
Zhanjun Wang,
Yanping Yang
et al.
Abstract:LINS1 is the human homolog of the Drosophila segment polarity gene that encodes an essential regulator of the wingless/Wnt signaling. By 2011, only seven pedigrees (16 patients) with eight causative variants in LINS1 gene have been reported. These cases mainly presented with infancy‐/child‐onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically distinct phenotypes were also manifested. In our study, two brothers in a family were admitted and diagnos… Show more
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