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Inicio Medicina Clínica (English Edition) New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and ...
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Vol. 149. Issue 12.
Pages 553-554 (December 2017)
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Vol. 149. Issue 12.
Pages 553-554 (December 2017)
Letter to the Editor
New pathogenic variant in the NPR2 gene: Etiology of low size, macrocephaly and bone dysplasia in a male with acromesomelic dysplasia Maroteaux-type
Nueva variante patogénica en el gen NPR2: etiología de talla baja, macrocefalia y displasia ósea en varón afectado de displasia acromesomélica tipo Maroteaux
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M. Cristina Vera Sáez-Benitoa, Silvia Izquierdo-Álvarezb, Antonio de Arriba Muñoza,
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adearriba@salud.aragon.es

Corresponding author.
a Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Infantil Miguel Servet, Zaragoza, Spain
b Sección de Genética Clínica y Reproducción Asistida, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain
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