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Details on Person Defects in STRA6 cause microphthalmia syndromic type 9 (MCOP...
| Class:Id | Summation:2453831 |
|---|---|
| _displayName | Defects in STRA6 cause microphthalmia syndromic type 9 (MCOP... |
| _timestamp | 2012-09-25 11:04:34 |
| created | [InstanceEdit:2453822] Jassal, Bijay, 2012-08-17 |
| modified | [InstanceEdit:2477156] Jassal, B, 2012-09-25 |
| text | Defects in STRA6 cause microphthalmia syndromic type 9 (MCOPS9, Matthew-Wood syndrome or Spear syndrome; MIM:601186) (Chassaing et al. 2009). Mutiple systems are affected by this fatal syndrome including occular and cardiac abnormalities. Microphthalmia (also called microphthalmos, nanophthalmia or nanophthalmos) is a developmental disorder of the eye that literally means small eye and in most cases results in blindness. Common loss-of-function mutations causing MCOPS9 are P90L, P293L, and T321P, T644M, R655C (Pasutto et al. 2007) and W23* (West at al. 2009). |
| (summation) | [FailedReaction:2453818] Defective STRA6 does not transport atROL [Homo sapiens] |
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