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Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

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Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, Institute of Cancer and Genomic Sciences, University of Birmingham, Department of Clinical Genetics, Lavender House, Birmingham Women’s and… Click to show full abstract

Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, Institute of Cancer and Genomic Sciences, University of Birmingham, Department of Clinical Genetics, Lavender House, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, Department of Medicine, West Hertfordshire Hospitals NHS Trust, Hertfordshire, Department of Paediatric Endocrinology, Evelina London Children’s Hospital, London, Guy’s King’s College and Saint Thomas’ Hospitals’ Medical and Dental School of King’s College London: King’s College London, School of Medical Education

Keywords: king college; ext2 syndrome; recessive ext2; department; autosomal recessive; genetics

Journal Title: Clinical Dysmorphology
Year Published: 2022

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