Anales de Pediatría (English Edition)

ISSN: 2341-2879

The Spanish Pediatric Association (Asociación Española de Pediatría, AEP) has as one of its main objectives the dissemination of rigorous and up-to-date scientific information on the various areas of pediatrics. Annals of Pediatrics is an open access journal that serves as the Association's Scientific Expression Organ and constitutes the vehicle through which members communicate. Annals of Pediatrics publishes, in English and Spanish, original research papers on pediatrics, as well as review articles prepared by experts in each specialty, and guidelines or positioning documents prepared by the different Societies/Specialized Sections integrated into the Spanish Pediatric Association. The journal, a reference for Spanish-speaking pediatrics, is indexed in the most important international databases: Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ).

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Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ)

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Scientific Letter

Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases

El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos

M. Fenollar-Cortésa,b,

Corresponding author

mariadelmar.fenollar@salud.madrid.org

Corresponding author.

, E. Lara-Orejasc, A. González-Menesesd, J.L. Ruibal-Franciscoc, M.J. Trujillo-Tiebasb,e

a Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain

b Servicio de Genética, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain

c Departamento de Pediatría, Hospital Infanta Cristina, Parla, Madrid, Spain

d Unidad de Dismorfología, Servicio de Pediatría, Hospital Universitario Virgen del Rocío, Sevilla, Spain

e Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

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Article information

ISSN: 23412879
Original language: English

DOI:10.1016/j.anpede.2015.05.010

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