Case report
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant
Síndrome de genes contiguos TSC2/PKD1 con énfasis en un caso con un fenotipo atípico de riñón poliquístico leve y una nueva variante genética
Miriam E. Reyna-Fabiána, Miguel A. Alcántara-Ortigozaa, Nancy L. Hernández-Martíneza, Jaime Berumenb,c, Raquel Jiménez-Garcíad, Gilberto Gómez-Garzae, Ariadna González-del Angela,?
Corresponding author
ariadnagonzalezdelangel@gmail.com
Corresponding author at: Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Insurgentes Sur 3700-C, Insurgentes-Cuicuilco, Del. Coyoacán, CP 04530, Ciudad de México, México.
Corresponding author at: Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Insurgentes Sur 3700-C, Insurgentes-Cuicuilco, Del. Coyoacán, CP 04530, Ciudad de México, México.
a Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México, México
b Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, México
c Unidad de Medicina Genómica, Hospital General de México, Ciudad de México, México
d Servicio de Nefrología, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México, México
e Resonancia Magnética, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México, México
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