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10.1055/s-0035-1554977

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suck abstract from ncbi


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pmid27617112
      J+Pediatr+Genet 2015 ; 4 (1 ): 23-8
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  • Partial Deletion of Chromosome 1p31 1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings #MMPMID27617112
  • Genovese A ; Cox DM ; Butler MG
  • J Pediatr Genet 2015[Mar]; 4 (1 ): 23-8 PMID27617112 show ga
  • We present two siblings with a partial deletion of chromosome 1p31.1 involving only the neuronal growth regulator 1 (NEGR1) gene. The siblings had a history of neuropsychiatric and behavioral problems, learning difficulties, hypotonia, mild aortic root dilatation, hypermobility, and scoliosis. This is the first clinical report of a microdeletion of chromosome 1p31.1 involving only the NEGR1 gene.
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