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Breadcrumb Research A Z researchers Karine Rizzoti Principal Laboratory Research Scientist Lovell-Badge lab Stem Cell Biology and Developmental Genetics Laboratory Email Address: Email Phone Number: +44 (0)20 3796 4349 Year published2022 (1) Facet Year publishedResearch topicsChemical Biology & High Throughput (1)Developmental Biology (1)Genetics & Genomics (1)Model Organisms (1)Neurosciences (1)Stem Cells (1)Structural Biology & Biophysics (1)Tumour Biology (1) Facet Research topicsPublication type (-)Case report (1)Journal article (1) Facet Publication typeJournalAmerican Journal of Medical Genetics Part A (1) Facet JournalCrick Pre-CrickCrick publications (1) Facet Crick Pre-Crick Displaying 1 - 1 of 1Last updated : 19 April 2024 02:39 A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy Authors (7) Diğdem Bezen Orkide KutluStephane MouilleronKarine Rizzoti Mehul Dattani Tulay Guran Gözde Yeşil American Journal of Medical Genetics Part A Published 1 September 2022 Crick labs/ facilitiesRobin Lovell-BadgeStructural BiologyFull details
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy Authors (7) Diğdem Bezen Orkide KutluStephane MouilleronKarine Rizzoti Mehul Dattani Tulay Guran Gözde Yeşil American Journal of Medical Genetics Part A Published 1 September 2022 Crick labs/ facilitiesRobin Lovell-BadgeStructural BiologyFull details