Adelaide Research & Scholarship
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http://hdl.handle.net/2440/32923| Citations | ||
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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. |
| RMID: | 0001003042 |
| DOI: | 10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N |
| Appears in Collections: | Paediatrics publications |
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