Cranio–lenticulo–sutural dysplasia
- Cranio–lenticulo–sutural dysplasia
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| Cranio–lenticulo–sutural dysplasia |
| Classification and external resources |
| OMIM |
607812 |
Cranio–lenticulo–sutural dysplasia is a autosomal recessive syndrome.
It is associated with SEC23A.[1]
References
- ^ Boyadjiev SA, Fromme JC, Ben J, et al. (October 2006). "Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking". Nat. Genet. 38 (10): 1192–7. doi:10.1038/ng1876. PMID 16980979.
| v · Inherited disorders of trafficking / vesicular transport proteins |
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| Vesicle formation |
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| Rab |
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| Cytoskeleton |
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| Vesicle fusion |
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see also vesicular transport proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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Categories:
- Medicine stubs
- Rare diseases
- Autosomal recessive disorders
- Syndromes
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