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El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos
Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases
M. Fenollar-Cortésa,b,
, E. Lara-Orejasc, A. González-Menesesd, J.L. Ruibal-Franciscoc, M.J. Trujillo-Tiebasb,e
Corresponding author
a Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, España
b Servicio de Genética, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, España
c Departamento de Pediatría, Hospital Infanta Cristina, Parla, Madrid, España
d Unidad de Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen del Rocío, Sevilla, España
e Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España
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