Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development - Concepedia

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

DOI Full Paper Access

239

Citations

29

References

2005

Year

Damien Sanlaville, Heather Etchevers, Marie Gonzalès, Jelena Martinović, Mathieu Clément‐Ziza, Anne‐Lise Delezoide, M. C. Aubry, Anna Pelet, Sophie Chemouny, Corinne Cruaud,

Journal of Medical Genetics

Abstract

These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.

References

	Year	Citations

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