Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome - Concepedia

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

52

Citations

33

References

2014

Year

Florian Recker, Marcin Zaniew, Detlef Böckenhauer, Nunzia Miglietti, Arend Bökenkamp, Anna Moczulska, Anna Rogowska‐Kalisz, Guido F. Laube, Valerie Said-Conti, Belde Kasap Demir,

Pediatric Nephrology

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathologyLowe SyndromePhenotypic SpectrumMolecular GeneticsNovel PatientsDisease Gene IdentificationMedicineClinical Genetics

References

	Year	Citations

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