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"Coffin-Siris" syndrome 1
Did you mean "Coffin-iris" syndrome 1?
- ... Siris syndrome National Organization for Rare Disorders (NORD) COFFIN-SIRIS SYNDROME 1; CSS1 PubMed Bramswig NC, Caluseriu O, Ludecke HJ, ... the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j. ...
- ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ... BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13) ...
- ... that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is ...