Oblique facial cleft
Definition:
Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results in defective cell adhesion and migration.
References:
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[1]. Irfan Saadi, et al. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011 Jul 15;89(1):44-55. [Content Brief]
[2]. Lisa Gfrerer, et al. Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis. Plast Reconstr Surg. 2014 Oct;134(4):748-759. [Content Brief]
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