Cranio–lenticulo–sutural dysplasia

Cranio–lenticulo–sutural dysplasia
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

  1. ^ 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. 

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