Jonathan Lopez, Adrien Buisson, Adel Ounnas, Gaelle Tachon, Alain Viari, Florence De Fraipont, Juliette Albuisson, Marc Barritault, Pierre-Paul Bringuier, Jean-Paul Feugeas, Anne Mc Leer, Ahmed Bouras
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Abstract
Collision of monoallelic MUTYH and POLE germline variants in a patient with adrenocortical carcinoma who achieved a strong response to immunotherapy.
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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