Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K. and Ousager, Lilian B. (2016) Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical Dysmorphology, 25 (2), 68-72. (doi:10.1097/MCD.0000000000000110). (PMID:26641461)
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Accepted/In Press date: 17 November 2015
Published date: April 2016
Organisations:
Faculty of Medicine
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Local EPrints ID: 397959
URI: http://eprints.soton.ac.uk/id/eprint/397959
ISSN: 0962-8827
PURE UUID: c9dceaab-260d-4b25-bdcd-4d6ee76ef1e1
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Date deposited: 13 Jul 2016 09:07
Last modified: 15 Mar 2024 01:25
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Author:
Anne B. Krøigård
Author:
Andrew P. Jackson
Author:
Louise S. Bicknell
Author:
Emma Baple
Author:
Klaus Brusgaard
Author:
Lars K. Hansen
Author:
Lilian B. Ousager
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