A novel case of CDH3-related Hypotrichosis with Juvenile Macular Degeneration (HJMD) has been reported in a black patient, highlighting unique genetic variants and the challenges faced during diagnosis. This case contributes to the understanding of HJMD and the genetic diversity within affected populations.
first cdh3 related hjmd case in a black patient novel variants and diagnostic odyssey
Original title: “First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.”