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

Anne Kroigard; Andrew Jackson; Louise Bicknell; Emma Baple; Klaus Brusgaard; Lars Hansen; Lilian Ousager

doi:10.1097/MCD.0000000000000110

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

Anne Kroigard, Andrew Jackson, Louise Bicknell, Emma Baple, Klaus Brusgaard, Lars Hansen, Lilian Ousager

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Clinical dysmorphology
Early online date	4 Dec 2015
DOIs	https://doi.org/10.1097/MCD.0000000000000110
Publication status	Published - Apr 2016

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10.1097/MCD.0000000000000110

Two_novel_mutations_in_RNU4ATAC_in_two_siblings.99677
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CROATIA PROGRAMME
Wright, A., Adams, I., Aligianis, I., Baldock, R., Bickmore, W., Caceres, J., Dorin, J., Dunlop, M., FitzPatrick, D., Haley, C., Hastie, N., Hill, B., Jackson, I., Jackson, A., Kudla, G., Meehan, R., O'Connell, M., Overton, I., Patton, E., Taylor, M., Tenesa, A. & Van Heyningen, V.
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title = "Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1",

author = "Anne Kroigard and Andrew Jackson and Louise Bicknell and Emma Baple and Klaus Brusgaard and Lars Hansen and Lilian Ousager",

year = "2016",

month = apr,

doi = "10.1097/MCD.0000000000000110",

language = "English",

journal = "Clinical dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams & Wilkins",

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T1 - Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

AU - Kroigard, Anne

AU - Jackson, Andrew

AU - Bicknell, Louise

AU - Baple, Emma

AU - Brusgaard, Klaus

AU - Hansen, Lars

AU - Ousager, Lilian

PY - 2016/4

Y1 - 2016/4

U2 - 10.1097/MCD.0000000000000110

DO - 10.1097/MCD.0000000000000110

M3 - Article

SN - 0962-8827

JO - Clinical dysmorphology

JF - Clinical dysmorphology

ER -

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

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