Enamel renal syndrome : A novel homozygous FAM20A founder mutation in 5 new Brazilian families

Enamel renal syndrome : A novel homozygous FAM20A founder mutation in 5 new Brazilian families

Mauricio Rocha Dourado, Cassio Roberto Rocha dos Santos, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Ricardo D. Coletta, Ana Terezinha Marques Mesquita

ARTIGO

Inglês

Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged...

FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE MINAS GERAIS - FAPEMIG

FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP

Fechado

Enamel renal syndrome : A novel homozygous FAM20A founder mutation in 5 new Brazilian families

Mauricio Rocha Dourado, Cassio Roberto Rocha dos Santos, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Ricardo D. Coletta, Ana Terezinha Marques Mesquita


										

Enamel renal syndrome : A novel homozygous FAM20A founder mutation in 5 new Brazilian families

Mauricio Rocha Dourado, Cassio Roberto Rocha dos Santos, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Ricardo D. Coletta, Ana Terezinha Marques Mesquita

    Fontes

    European Journal of Medical Genetics

    Vol. 62, no. 11 (Nov., 2019), n. art. UNSP 103561