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

Clin Genet. 2020 Mar;97(3):529-531. doi: 10.1111/cge.13659. Epub 2019 Nov 6.

Affiliations

¹ Departamento de Genética, Universidade Federal do Paraná-UFPR, Curitiba, Brazil.
² Departamento de Clínica Médica, Hospital de Clínicas, UFPR, Curitiba, Brazil.
³ Departamento de Retina e Vítreo, Universidade Federal de São Paulo, UNIFESP, São Paulo, Brazil.
⁴ Departamento de Oftalmo-Otorrinolaringologia da Faculdade de Medicina, Setor de Ciências da Saúde, UFPR, Curitiba, Brazil.

PMID: 31696509
DOI: 10.1111/cge.13659

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

CDH3 protein, human
Cadherins