A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Authors:

G. Velez; A.G. Bassuk; K.A. Schaefer; B. Brooks; L. Gakhar; M. Mahajan; P. Kahn; S.H. Tsang; P.J. Ferguson; V.B. Mahajan

Publication PDF File:

PDF Download

Citation:

Velez G, Bassuk AG, Schaefer KA, et al. "A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay." Molecular Case Studies. 2018:mcs–a002519.

Year of Publication:

2018