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    Nosological delineation of congenital ocular motor apraxia type Cogan: an obs...

    Abstract Background The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some...
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    Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability...

    Abstract Background Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early...