Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

por Ulm, Elizabeth A., Nagaraj, Chinmayee B., Tian, Cuixia, Smolarek, Teresa A.
Publicado 2022

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center

por Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.
Publicado 2022