Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the “diagnostic odyssey” in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an a...

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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: Palmer, Lisa, Butcher, Nancy J., Boot, Erik, Hodgkinson, Kathleen A., Heung, Tracy, Chow, Eva WC, Guna, Alina, Crowley, T. Blaine, Zackai, Elaine, McDonald-McGinn, Donna M., Bassett, Anne S.
Format: Artigo
Language:Inglês
Published: 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5873609/
https://ncbi.nlm.nih.gov/pubmed/29575622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38645
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