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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,
, 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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ISSN: 23412879
Original language: English
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Anales de Pediatría (English Edition)