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Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism
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1995
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Genetic TestingGeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenetic MedicineEpigeneticsClinical GeneticsMendelian DisorderTranslational BiologyFragile X PremutationMonogenic DisordersFranklin Quan 1DnaFragile X SyndromeGenome InstabilityInherited Metabolic DiseaseUsa SearchMolecular MedicineFmr1 GeneGenetic DisorderFragile X SpectrumMedical GeneticsMedicineSpontaneous DeletionDevelopmental Delay
Journal Article Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism Get access Franklin Quan, Franklin Quan 1DNA Diagnostic LaboratoryPortland OR 97201, USA2Department of Molecular and Medical Genetics, Oregon Health Sciences UniversityPortland OR 97201, USA3Shriners Hospital for Crippled ChildrenPortland OR 97201, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Marcus Grompe, Marcus Grompe 2Department of Molecular and Medical Genetics, Oregon Health Sciences UniversityPortland OR 97201, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Petra Jakobs, Petra Jakobs 2Department of Molecular and Medical Genetics, Oregon Health Sciences UniversityPortland OR 97201, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Bradley W. Popovich Bradley W. Popovich 1,2,3,* *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 9, September 1995, Pages 1681–1684, https://doi.org/10.1093/hmg/4.9.1681 Published: 01 September 1995 Article history Received: 08 May 1995 Accepted: 23 June 1995 Published: 01 September 1995