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Results 1 - 3 of 3 for "Coffin-Siris" syndrome 5
Did you mean "Coffin-iris" syndrome 5?
  1. Septo-optic dysplasia 
    ... each cell is sufficient to cause the disorder. Coffin-Siris syndrome Combined pituitary hormone deficiency 5 CPHD5 De Morsier syndrome Septo-optic dysplasia complex ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  2. Coffin-Siris syndrome 
    ... N, Matsumoto N. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - 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 ... 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics