Litcius/Paper detail

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Maria João Nabais Sá, Geniver El Tekle, Arjan P.M. de Brouwer, Sarah L. Sawyer, Daniela del Gaudio, Michael Parker, Farah Kanani, Marie‐José H. van den Boogaard, Koen L.I. van Gassen, Margot I. Van Allen, Klaas J. Wierenga, Gabriela Purcarin, Ellen Roy Elias, Amber Begtrup, Jennifer Keller‐Ramey, Tiziano Bernasocchi, Laurens Wiel, Christian Gilissen, Hanka Venselaar, Rolph Pfundt, Lisenka E.L.M. Vissers, Jean‐Philippe Theurillat, Bert B.A. de Vries

2020The American Journal of Human Genetics22 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationExome sequencingMacrocephalyBiologyMicrocephalyGeneticsCraniofacialLoss functionIntellectual disabilityEndometrial cancerHypertelorismCongenital hypothyroidismMedical geneticsCancerMutationGenePhenotypeThyroidGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways