Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Damien Sanlaville; Heather C Etchevers; Marie Gonzales; Jelena Martinovic; Mathieu Clément-Ziza; Anne-Lise Delezoide; Marie-Cécile Aubry; Anna Pelet; Sophie Chemouny; Corinne Cruaud; Sophie Audollent; Chantal Esculpavit; Geraldine Goudefroye; Catherine Ozilou; Catherine Fredouille; Nicole Joyé; Nicole Morichon-Delvallez; Yves Dumez; Jean Weissenbach; Arnold Munnich; Jeanne Amiel; Férechté Encha-Razavi; Stanislas Lyonnet; Michel Vekemans; Tania Attié-Bitach

doi:10.1136/jmg.2005.036160

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

https://doi.org/10.1136/jmg.2005.036160

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