By

Linda Sorg

20
Aug

CDO’s Summer 2020 Newsletter

CDO’s Summer 2020 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes family stories, additional resources, Ask the Doctor, new research updates and more. To submit an article, story or other item of interest for an upcoming issue email info@chromodisorder.org...
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10
Jun

chromosome 2q14.3 deletion disrupting CNTNAP5

2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly. The contactin-associated proteins (CNTNAP) are a subgroup of the neurexin family, predominantly expressed in the central nervous system (CNS). These genes are essential in neurodevelopment and appropriate CNS functioning; contributing to neuron excitation, signaling, conduction,...
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