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Scientific Letter
New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)
Nueva variante patogénica c.3855+4A>G en el gen NIPBL asociada al síndrome de Cornelia de Lange tipo 1 (OMIM#122470)
Sandra Maeso-Méndeza,b,
Corresponding author
, Saioa Jiménez Echevarríaa, Zuriñe García Casalesa,c, Ignacio Díez Lópeza,b,c
a Servicio de Pediatría, Hospital Universitario Araba, Vitoria-Gasteiz, Álava, Spain
b Grupo Crecimiento y Metabolismo Infanto-Juvenil, Instituto de Investigación Sanitaria Bioaraba, Vitoria-Gasteiz, Álava, Spain
c Departamento de Pediatría, Universidad del País Vasco, Vitoria-Gasteiz, Álava, Spain
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ISSN: 23412879
Original language: English
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