Article

In-frame deletion of SPECC1L microtubule binding domain results in embryonic tissue movement and fusion defects

2021-01-28

Abstract excerpt

Embryonic morphogenesis of the neural tube, palate, ventral body wall and optic fissure require precise sequence of tissue movement and fusion, which if incomplete, leads to anencephaly/exencephaly, cleft palate, omphalocele and coloboma, respectively. These are genetically heterogeneous birth defects, so there is a continued need to identify etiologic genes. Patients with autosomal dominant SPECC1L mutations sho...

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Literature Corpus work: 92207ffd-54fb-59e9-b986-3efa0ca90a63
DOI: 10.1101/2021.01.28.428634

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