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Scientific Letter
The clinical complexity of PKHD1 gene: from neonatal lethality to casual diagnosis in late pediatric stages
La complejidad clínica del gen PKHD1: de la letalidad perinatal al diagnóstico casual en etapas pediátricas tardías
Ana Rubio-Grandaa, Helena Gil-Peñaa,b, Carlos Rodríguez-Márqueza, Gonzalo Solís-Sáncheza,b,c, Flor Angel Ordóñez-Álvareza,b,
a Área de Gestión Clínica de la Infancia y Adolescencia, Hospital Universitario Central de Asturias, Oviedo, Spain
b Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain
c Universidad de Oviedo, Oviedo, Spain
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ISSN: 23412879
Original language: English
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