[1] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, Ctr Estudos Genoma Humano, BR-05422970 Sao Paulo, Brazil
[2] Leiden Univ, Dept Mol Cell Biol, Med Ctr, Leiden, Netherlands
[3] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden, Netherlands
[4] Hosp Infantil Darcy Vargas, Sao Paulo, Brazil
[5] Dept Med Genet, Joinville, Brazil
[6] Secretaria Municipal Saude, Centrinho Prefeito Luiz Gomes, Joinville, Brazil