2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3
2008
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)
Jiang Y, Martinez JE, Ou Z, Cooper ML, Kang S, Pursley A, Cheung SW. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23). American Journal Of Medical Genetics Part A 2008, 146A: 1986-1993. PMID: 18627051, DOI: 10.1002/ajmg.a.32408.Peer-Reviewed Original ResearchAbnormalities, MultipleChild, PreschoolChromosome BreakageChromosome DeletionChromosome InversionChromosomes, Artificial, BacterialChromosomes, Human, Pair 14Developmental DisabilitiesFemaleGenome, HumanHumansIn Situ Hybridization, FluorescenceKaryotypingMuscle HypotoniaOligonucleotide Array Sequence AnalysisPhenotype