December 17, 2021


Chromosome 12q14 deletions and review of the literature

Chromosome 12q14 deletions and review of the literature to determine the identification of relevant disease causing genes in these patients. Deletions of 12q14 are relatively well known. The authors report two boys with non-overlapping deletions in this area. The first one with a 4.4 Mb deletion in 12q14.2q15 had short...
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CDO Fall – Winter 2021 Newsletter

Chromosome Disorder Outreach’s Fall-Winter 2021 Newsletter is now available! Each issue contains detailed and new information on rare chromosome and gene mutation disorders. The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Fall-Winter 2021 issue here....
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