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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
Clin Dysmorphol 2016; 25(2):68-72CD

Authors+Show Affiliations

aDepartment of Clinical Genetics bH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark cMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh dUniversity of Southampton, Southampton, UK eDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26641461

Citation

Krøigård, Anne B., et al. "Two Novel Mutations in RNU4ATAC in Two Siblings With an Atypical Mild Phenotype of Microcephalic Osteodysplastic Primordial Dwarfism Type 1." Clinical Dysmorphology, vol. 25, no. 2, 2016, pp. 68-72.
Krøigård AB, Jackson AP, Bicknell LS, et al. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clin Dysmorphol. 2016;25(2):68-72.
Krøigård, A. B., Jackson, A. P., Bicknell, L. S., Baple, E., Brusgaard, K., Hansen, L. K., & Ousager, L. 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), pp. 68-72. doi:10.1097/MCD.0000000000000110.
Krøigård AB, et al. Two Novel Mutations in RNU4ATAC in Two Siblings With an Atypical Mild Phenotype of Microcephalic Osteodysplastic Primordial Dwarfism Type 1. Clin Dysmorphol. 2016;25(2):68-72. PubMed PMID: 26641461.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. AU - Krøigård,Anne B, AU - Jackson,Andrew P, AU - Bicknell,Louise S, AU - Baple,Emma, AU - Brusgaard,Klaus, AU - Hansen,Lars K, AU - Ousager,Lilian B, PY - 2015/12/8/entrez PY - 2015/12/8/pubmed PY - 2016/12/15/medline SP - 68 EP - 72 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 25 IS - 2 SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/26641461/Two_novel_mutations_in_RNU4ATAC_in_two_siblings_with_an_atypical_mild_phenotype_of_microcephalic_osteodysplastic_primordial_dwarfism_type_1_ L2 - http://Insights.ovid.com/pubmed?pmid=26641461 DB - PRIME DP - Unbound Medicine ER -