Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility - Concepedia

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Publication | Open Access

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

DOI Full Paper Access

63

Citations

32

References

2018

Year

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany, Cécile de Leusse, Evelyne Marinier, Arnaud Blanchard, Patrice Bourgeois, Céline Brochier‐Armanet, Ange‐Line Bruel,

The American Journal of Human Genetics

Bone FragilityMendelian DisorderGenetic DisorderGeneticsPathogenesisPathologyMolecular GeneticsLoss-of-function MutationsDisease Gene IdentificationUnc45a CauseMedicineVariant InterpretationClinical Genetics

References

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