A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree - Concepedia

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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

DOI Full Paper Access

59

Citations

26

References

2012

Year

Caterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, Emanuela Caci, Roberto Cusano, Joseph Garibaldi, Tommaso Pippucci, Alberto Merlini, Claudio Marchetti, Kerry J. Rhoden,

European Journal of Human Genetics

BiologyDevelopmental AnomalyLarge Italian PedigreeMendelian DisorderGenetic DisorderGeneticsMolecular GeneticsGenetic VariationGnathodiaphyseal DyplasiaMedicineNovel Missense Mutation

References

	Year	Citations

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