The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

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Author : 
Marcos, S ; Sarfati, J ; Leroy, C ; Fouveaut, C ; Parent, P ; Metz, C & al
Newspaper edition : 
J. Clin. Endocrinol. Metab. - Année 2014 - Volume 99 - Page e2138-43 - PMID 25077900