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Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. [electronic resource] by
- Patel, Nisha
- Khan, Arif O
- Mansour, Ahmad
- Mohamed, Jawahir Y
- Al-Assiri, Abdullah
- Haddad, Randa
- Jia, Xiaofei
- Xiong, Yong
- Mégarbané, André
- Traboulsi, Elias I
- Alkuraya, Fowzan S
Producer: 20140627
In:
American journal of human genetics vol. 94
Availability: No items available.
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Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome. [electronic resource] by
- Beene, Lauren C
- Wang, Lauren W
- Hubmacher, Dirk
- Keene, Douglas R
- Reinhardt, Dieter P
- Annis, Douglas S
- Mosher, Deane F
- Mecham, Robert P
- Traboulsi, Elias I
- Apte, Suneel S
Producer: 20140212
In:
Investigative ophthalmology & visual science vol. 54
Availability: No items available.
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