PTCH1 duplication in a family with microcephaly and mild developmental delay

With the exception of the X chromosome, genomic deletions appear to be more prevalent than duplications. Because of a lack of accurate diagnostic methods, submicroscopic duplications have been under-ascertained for a long period. The development of array CGH has enabled the detection of chromosomal...

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Bibliographic Details
Main Authors: Derwińska, Katarzyna, Smyk, Marta, Cooper, Mitchell Lance, Bader, Patricia, Cheung, Sau Wai, Stankiewicz, Paweł
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2009
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986050/
https://ncbi.nlm.nih.gov/pubmed/18830227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.176
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