Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling recurrence o...

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Bibliographische Detailangaben
Hauptverfasser: Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376266/
https://ncbi.nlm.nih.gov/pubmed/22293690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.1
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