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An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17.

Al-Owain M, Alazami AM, Alkuraya FS. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Clin Genet. 2011 Nov; 80(5):489-92.

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