Articles with "recessive ext2" as a keyword



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

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Published in 2022 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000406

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,… read more here.

Keywords: king college; ext2 syndrome; recessive ext2; department ... See more keywords