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