How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum - Concepedia

Concepedia

Publication | Open Access

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

DOI Full Paper Access

180

Citations

11

References

2011

Year

Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston,

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGeneticsClinical GeneticsGenetic EpidemiologyPathologyKabuki SyndromePhenotypic SpectrumMolecular GeneticsDisease Gene IdentificationPublic HealthMolecular DiagnosticsVariant InterpretationMonogenic Disorders

References

	Year	Citations

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