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L1 syndrome
- L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity ...
- ... the L1CAM gene have been found to cause L1 syndrome. L1 syndrome describes a group of conditions that vary in ... and occur almost exclusively in males. People with L1 syndrome often have brain abnormalities, intellectual disability, and movement ...
- ... organs. The COLEC10 gene mutations that cause 3MC syndrome impair or eliminate the function of the CL-L1 protein, resulting in faulty control of cell migration ...
- ... complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 ... of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1). Immunobiology. ...
- ... complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 ... of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1). Immunobiology. ...