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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
0962-8827
68-72
Krøigård, Anne B.
eacf29a6-8944-4a70-9b83-dbb766afc919
Jackson, Andrew P.
9fed7097-f296-4d5c-ab2d-49fb80cce0a1
Bicknell, Louise S.
9c95ab98-830f-44a8-b2fb-ac3df8bceec8
Baple, Emma
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Brusgaard, Klaus
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Hansen, Lars K.
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Ousager, Lilian B.
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Krøigård, Anne B.
eacf29a6-8944-4a70-9b83-dbb766afc919
Jackson, Andrew P.
9fed7097-f296-4d5c-ab2d-49fb80cce0a1
Bicknell, Louise S.
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Baple, Emma
3c26ed20-f1d8-465c-9c20-badd025bb731
Brusgaard, Klaus
f17e4660-5a38-4f7c-9ce4-c5ec523f7b30
Hansen, Lars K.
16c69502-63d5-4d8a-b3fb-ab84920182c2
Ousager, Lilian B.
c3e5e3dd-b902-4a87-9b47-a341bc614a9d

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)

Record type: Article
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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: 16 Dec 2019 19:49

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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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