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First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene by María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta Martínez, Encarna Guillén-Navarro
Published 2020Connect to this object online.
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Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos by María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro
Published 2022Connect to this object online.
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Primer caso español de discapacidad intelectual sindrómica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B by María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta Martínez, Encarna Guillén-Navarro
Published 2020Connect to this object online.
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