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

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

Primer caso español de discapacidad intelectual sindrónica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B

María José Sánchez-Solera,b,

Corresponding author

mj.sanchezsolser@gmail.com

Corresponding author at: Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain.

, Ana Teresa Serrano-Antóna,b, Vanesa López-Gonzáleza,b, María Juliana Ballesta Martíneza,b, Encarna Guillén-Navarroa,b

a Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain

b Centro de Investigación Biomédica en Red deEnfermedades Raras (CIBERER), Madrid, Spain

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Article information

ISSN: 23412879
Original language: English

DOI:10.1016/j.anpede.2019.03.007

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