Male patients affected by mosaic PCDH19 mutations: five new cases

Male patients affected by mosaic PCDH19 mutations: five new cases

Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients h...

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Bibliographic Details
Main Authors: Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra
Format: Artigo
Language:English
Published: 2017
Online Access:https://doi.org/10.1007/s10048-017-0517-5
https://link.springer.com/content/pdf/10.1007/s10048-017-0517-5.pdf
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https://doi.org/10.1007/s10048-017-0517-5
https://link.springer.com/content/pdf/10.1007/s10048-017-0517-5.pdf

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