Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region. To determine whether non-codi...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Zhou, Y, Koelling, N, Fenwick, A, McGowan, S, Calpena, E, Wall, S, Smithson, S, Wilkie, A, Twigg, S
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	Wiley 2018

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