CHOPS Syndrome Found, Tied to Key Events in Early Development
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A puzzling multisystem disorder leads to discovery of a new genetic syndrome, and an end to families’ "diagnostic odysseys."
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A puzzling multisystem disorder leads to discovery of a new genetic syndrome, and an end to families’ "diagnostic odysseys."
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A new CHOP study has uncovered several gene networks with potentially important roles in autism. These networks may offer attractive targets for developing new autism treatments.
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Pedigrees are diagrams showing how inherited diseases occur in a family. The CBMi’s new app lets genetic counselors draw pedigrees with a few finger taps during a patient encounter.