Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.

Authors:
Patricia Vega
Patricia Vega
University of the Basque Country
Spain
Nancy Medina
Nancy Medina
Consultorio y Laboratorio de Neurogenética
Guillermo Agosta
Guillermo Agosta
Hospital Italiano de Buenos Aires
Marcelo Kauffman
Marcelo Kauffman
Hospital Ramos Mejía
Argentina

Am J Med Genet A 2019 Jun 26;179(6):1074-1076. Epub 2019 Mar 26.

Consultorio de Neurogenética, Centro Universitario de Neurología y División Neurología, Hospital J.M. Ramos Mejía, Facultad de Medicina, UBA, Buenos Aires, Argentina.

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Source
http://dx.doi.org/10.1002/ajmg.a.61135DOI Listing
June 2019

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References

(Supplied by CrossRef)
Somatic mosaicism and neurodevelopmental disease
D'Gama A. M. et al.
Nature Neuroscience 2018

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