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

@article{Sanlaville2006PhenotypicSO,
  title={Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.},
  author={D. Sanlaville and Heather C Etchevers and Marie Gonzal{\`e}s and Jelena Martinovic and Mathieu Cl{\'e}ment-Ziza and A-L Delezoide and Mathilde Aubry and Anna Pelet and St{\'e}phane Chemouny and Corinne Cruaud and Sophie Audollent and Chantal Esculpavit and G{\'e}raldine Goudefroye and Catherine Ozilou and Catherine Fredouille and Nicole Joyē and Nicole Morichon-Delvallez and Yves Dumez and Jean Weissenbach and Arnold Munnich and Jeanne Amiel and F{\'e}r{\'e}cht{\'e} Encha-Razavi and Stanislas Lyonnet and Michel Vekemans and Tania Atti{\'e}-Bitach},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 3},
  pages={
          211-217
        }
}
BACKGROUND The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. METHODS We… CONTINUE READING
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