TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant

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Case report

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.

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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Article information

ISSN: 02116995
Original language: English

DOI:10.1016/j.nefro.2019.03.003

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