Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.

Authors :: Schauren JS
Torres ACMBG
de Almeida RC
Santos PSC
Mulinari-Brenner F
Lima LH
Zago Filho LA
Shiokawa N
Bicalho MDG
Sato MT
Source :: Clinical genetics [Clin Genet] 2020 Mar; Vol. 97 (3), pp. 529-531. Date of Electronic Publication: 2019 Nov 06.
Publication Year :: 2020

Subjects :: Brazil epidemiology
Exome genetics
Female
Genetic Predisposition to Disease
Humans
Hypotrichosis epidemiology
Hypotrichosis pathology
Macular Degeneration epidemiology
Macular Degeneration pathology
Male
Mutation genetics
Pedigree
Stargardt Disease epidemiology
Stargardt Disease pathology
Exome Sequencing
Cadherins genetics
Hypotrichosis genetics
Macular Degeneration genetics
Stargardt Disease genetics

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