Adelaide Research & Scholarship
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https://hdl.handle.net/2440/32923
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| Type: | Journal article |
| Title: | Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome |
| Author: | Villard, L. Fontes, M. Ades, L. Gecz, J. |
| Citation: | American Journal of Medical Genetics Part A, 2000; 91(1):83-85 |
| Publisher: | Wiley-Liss |
| Issue Date: | 2000 |
| ISSN: | 1552-4825 1552-4833 |
| Statement of Responsibility: | Laurent Villard, Michel Fontès, Lesley C. Adès, Jozef Gecz |
| Keywords: | Face Humans Microcephaly Abnormalities, Multiple Syndrome DNA Helicases Nuclear Proteins DNA Pedigree DNA Mutational Analysis Sequence Deletion Base Sequence Sequence Homology, Nucleic Acid Mutation Frameshift Mutation Point Mutation Family Health Female Male Intellectual Disability |
| Description: | Letter to the Editor |
| Rights: | © 2000 Wiley-Liss, Inc. |
| DOI: | 10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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