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publicationName The Journal of clinical endocrinology and metabolism
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bibliographicCitation Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin J, Dodé C. The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients. The Journal of Clinical Endocrinology & Metabolism. 2014 Oct;99(10):E2138–43. doi: 10.1210/jc.2014-2110.
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date 201410
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title The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
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