Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

@inproceedings{Glassford2016NovelFO,
  title={Novel features of 3q29 deletion syndrome: Results from the 3q29 registry},
  author={Megan R. Glassford and Jill A Rosenfeld and Alexa A Freedman and Michael E. Zwick and Jennifer Gladys Mulle},
  booktitle={American journal of medical genetics. Part A},
  year={2016}
}
3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet-based survey instruments. We report here on data collected during… CONTINUE READING
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