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

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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. / Kroigard, Anne; Jackson, Andrew; Bicknell, Louise; Baple, Emma; Brusgaard, Klaus; Hansen, Lars; Ousager, Lilian.

In: Clinical dysmorphology, 04.2016.

Research output: Contribution to journalArticle

Harvard

Kroigard, A, Jackson, A, Bicknell, L, Baple, E, Brusgaard, K, Hansen, L & Ousager, L 2016, 'Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1', Clinical dysmorphology. https://doi.org/10.1097/MCD.0000000000000110

APA

Kroigard, A., Jackson, A., Bicknell, L., Baple, E., Brusgaard, K., Hansen, L., & Ousager, L. (2016). Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical dysmorphology. https://doi.org/10.1097/MCD.0000000000000110

Vancouver

Kroigard A, Jackson A, Bicknell L, Baple E, Brusgaard K, Hansen L et al. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clinical dysmorphology. 2016 Apr. https://doi.org/10.1097/MCD.0000000000000110

Author

Kroigard, Anne ; Jackson, Andrew ; Bicknell, Louise ; Baple, Emma ; Brusgaard, Klaus ; Hansen, Lars ; Ousager, Lilian. / Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. In: Clinical dysmorphology. 2016.