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Results 1 - 4 of 4 for "Coffin-Siris" syndrome 1
Did you mean "Coffin-iris" syndrome 1?
  1. Coffin-Siris syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. Septo-optic dysplasia 
    ... each cell is sufficient to cause the disorder. Coffin-Siris syndrome Combined pituitary hormone deficiency 5 CPHD5 De Morsier ... M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol. 2006 Jan;34(1):66-71. doi: 10.1016/j.pediatrneurol.2005. ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  3. DOORS syndrome 
    ... 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) ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  4. Anonychia congenita 
    ... that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is ...
    https://medlineplus.gov/genetics/condition/anonychia-congenita - Genetics