TY  - JOUR
T1  - Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses
A1  - Angeloni, Luise Longo
A1  - Jorente, Josep
A1  - Sobrinho, Ruy Pires de Oliveira
A1  - Gil-da-Silva-Lopes, Vera Lúcia
A1  - Vidoti-Nascimento, Carolina Gama
A1  - Guaragna, Mara Sanches
A1  - Vieira, Tarsis Paiva
A1  - Steiner, Carlos Eduardo
Y1  - 2026/06/25/
KW  - Neurofibromatosis 1
KW  - Neurofibromatosis-noonan
KW  - Whole genome sequencing
KW  - Optical genome mapping
KW  - Incidental findings
KW  - Double diagnosis
KW  - DNAH5
KW  - KCND3
PY  - 2026
DO  - 10.31744/einstein_journal/2026AO2160
JF  - einstein (São Paulo)
VL  - 24
SP  - 
EP  - 
LA  - en
SN  - 1679-4508
UR  - https://journal.einstein.br/article/whole-genome-sequencing-in-brazilian-patients-with-neurofibromatosis-type-1-including-novel-variants-incidental-findings-and-dual-diagnoses/
Y2  - 2026/06/29/04:10:19
ER  -