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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Am J Med Genet A. 2015 Apr; 167A(4):914-8.AJ

Links

Publisher Full Text (DOI)

Authors+Show Affiliations

Sarkar A
Department of Medicine, Baylor College of Medicine, Houston, Texas.
Emrick LT
No affiliation info available
Smith EM
No affiliation info available
Austin EG
No affiliation info available
Yang Y
No affiliation info available
Hunter JV
No affiliation info available
Scaglia F
No affiliation info available
Lalani SR
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolCodon, NonsenseDNA Mutational AnalysisExomeFemaleGenetic Association StudiesHeterozygoteHumansMaleMandibulofacial DysostosisMicrocephalyPeptide Elongation FactorsRadiographyRibonucleoprotein, U5 Small NuclearSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25735261

Citation

Sarkar, Arindam, et al. "Novel De Novo Mutations in EFTUD2 Detected By Exome Sequencing in Mandibulofacial Dysostosis With Microcephaly Syndrome." American Journal of Medical Genetics. Part A, vol. 167A, no. 4, 2015, pp. 914-8.
Sarkar A, Emrick LT, Smith EM, et al. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015;167A(4):914-8.
Sarkar, A., Emrick, L. T., Smith, E. M., Austin, E. G., Yang, Y., Hunter, J. V., Scaglia, F., & Lalani, S. R. (2015). Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. American Journal of Medical Genetics. Part A, 167A(4), 914-8. https://doi.org/10.1002/ajmg.a.36948
Sarkar A, et al. Novel De Novo Mutations in EFTUD2 Detected By Exome Sequencing in Mandibulofacial Dysostosis With Microcephaly Syndrome. Am J Med Genet A. 2015;167A(4):914-8. PubMed PMID: 25735261.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. AU - Sarkar,Arindam, AU - Emrick,Lisa T, AU - Smith,Eboni M, AU - Austin,Elise G, AU - Yang,Yaping, AU - Hunter,Jill V, AU - Scaglia,Fernando, AU - Lalani,Seema R, Y1 - 2015/03/03/ PY - 2014/07/24/received PY - 2014/12/21/accepted PY - 2015/3/5/entrez PY - 2015/3/5/pubmed PY - 2015/12/15/medline SP - 914 EP - 8 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 167A IS - 4 SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/25735261/Novel_de_novo_mutations_in_EFTUD2_detected_by_exome_sequencing_in_mandibulofacial_dysostosis_with_Microcephaly_syndrome_ DB - PRIME DP - Unbound Medicine ER -