Microcornea, myopic chorioretinal atrophy, and telecanthus
Definition:
Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular matrix remodeling. It is suggested that ADAMTS18 plays an essential role in early eye development.
References:
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[1]. Arif O Khan, et al. Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. Ophthalmic Genet. 2012 Dec;33(4):196-9. [Content Brief]
[2]. Mohammed A Aldahmesh, et al. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat. 2013 Sep;34(9):1195-9. [Content Brief]
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