Publications:

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Neurogenetics

Schon, Katherine K; Spasic-Boskovic, Olivera O; Brugger, Kim K; Graves, Tracey D TD; Abbs, Stephen S; Park, Soo-Mi SM; Ambegaonkar, Gautam G; Armstrong, Ruth R

Publication Date: 2017-01

Variant appearance in text: GJB1: 775C>T

PubMed Link: 28063088

Variant Present in the following documents:

• 10048_2016_Article_504.pdf

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