Cranio-lenticulo-sutural dysplasia
Definition:
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
References:
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[1]. Simeon A Boyadjiev, et al. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin Genet. 2011 Aug;80(2):169-76. [Content Brief]
[2]. Simeon A Boyadjiev, et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet. 2006 Oct;38(10):1192-7. [Content Brief]
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